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2.
Arch. argent. pediatr ; 119(1): S17-S35, feb. 2021. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1147358

ABSTRACT

La presente revisión de la "Guía de diagnóstico y tratamiento de pacientes con fibrosis quística"publicada en el año 2014 tiene como objetivo actualizar el conocimiento acerca de varios aspectos relacionados con el manejo clínico de la enfermedad, según los avances científicos publicados y en desarrollo en los últimos años. Solo se tratarán aquí tópicos nuevos y aquellos que, a la luz de la investigación, requieren ser modificados, por lo que el contenido de la anterior guía permanece vigente en el resto de las cuestiones.Los aspectos actualizados se dan en el diagnóstico de la enfermedad por los cambios realizados en el test del sudor, la pesquisa neonatal y la biología molecular, la actualización de estudios de seguimiento, como el índice de aclaramiento pulmonar y la resonancia magnética nuclear, y modificaciones con respecto al área nutricional (diabetes secundaria a fibrosis quística) y el tratamiento kinésico y de rehabilitación pulmonar


The present revision of the Guide for the diagnosis and treatment of patients with cystic fibrosis published in 2014 aims to update the knowledge about various aspects related to the clinical management of the disease, according to the scientific advances published and in development in recent years. Only new topics will be discussed here and those that, in light of the research, require modification, so the content of the previous guide remains valid in the rest of the aspects.The updated aspects range over the diagnosis of the disease due to the changes made in the sweat test, the neonatal screening and molecular biology, the update of follow-up studies, such as the Lung Clearance Index and the Nuclear Magnetic Resonance, and modifications regarding the nutritional area (diabetes secondary to cystic fibrosis) and the physiotherapy treatment and pulmonary rehabilitation.


Subject(s)
Humans , Child , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Respiratory Tract Infections/therapy
4.
Rev. chil. endocrinol. diabetes ; 14(4): 171-177, 2021. tab
Article in Spanish | LILACS | ID: biblio-1348218

ABSTRACT

Los avances en el campo de la fibrosis quística han aumentado la esperanza de vida de estos pacientes, por lo que cada vez es más prevalente la Diabetes Relacionada con la Fibrosis Quística (DRFQ) y sus complicaciones. La DRFQ se asocia a mayor morbimortalidad, deterioro de la función pulmonar y del estado nutricional. Por lo mismo, el manejo óptimo de esta patología depende de un diagnóstico precoz, tratamiento individualizado y vigilancia de las complicaciones diabéticas. El screening de DRFQ debe realizarse anualmente a partir de los 10 años, mediante una Prueba de Tolerancia a la Glucosa Oral (PTGO), lo cual permite el diagnóstico. El manejo de esta patología tiene por objetivo estabilizar y mejorar la función pulmonar y el estado nutricional y metabólico de los pacientes. Actualmente, la insulina es el tratamiento farmacológico de elección para controlar la hiperglicemia y el esquema de uso debe ser individualizado para cada persona. En caso de enfermedades agudas pueden existir mayores requerimientos de insulina. Además, se deben tener consideraciones especiales en cuanto a la dieta y la insuficiencia pancreática exocrina que presentan estos pacientes. Para la vigilancia de complicaciones microvasculares se debe realizar una monitorización anual a partir de los 5 años desde el diagnóstico de DRFQ. Debido a la complejidad de estos pacientes, para alcanzar el mejor cuidado posible se necesita un enfoque multidisciplinario con distintos profesionales de la salud coordinados, incluyendo en la toma de decisiones al paciente y su familia.


Advances made in the field of cystic fibrosis have increased the life expectancy of these patients, which is why Cystic Fibrosis-Related Diabetes (CFRD) and its complications are becoming more and more prevalent. CFRD is associated with increased morbidity and mortality, lower lung function and inadequate weight maintenance. Therefore, the optimal management of this pathology depends on an early diagnosis, individualized treatment and monitoring of diabetic complications. For CFRD, routine screening with an Oral Glucose Tolerance Test (OGTT) should be carried out yearly from the age of 10, which allows to diagnose it. The treatment goals in CFRD are to stabilize and improve lung function and obtain adequate weight gain. Currently, insulin is the pharmacological treatment of choice to control hyperglycemia and the insulin regimen must be personalized for each person. In acute illnesses, there may be higher insulin requirements. In addition, special considerations must be taken regarding diet and exocrine pancreatic insufficiency that these patients present. For the surveillance of microvascular complications, annual monitoring should be carried out 5 years after the diagnosis of CFRD. Due to the complexity of these patients, in order to achieve the best possible care, a multidisciplinary approach is needed with different coordinated health professionals, including the patients and their family in the decision-making process.


Subject(s)
Humans , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Diabetes Mellitus/etiology , Diabetes Mellitus/therapy , Patient Care Team , Mass Screening , Cystic Fibrosis/physiopathology , Nutrition Therapy , Diabetes Mellitus/diagnosis , Diabetes Mellitus/physiopathology , Insulins/therapeutic use , Glucose Tolerance Test , Hypoglycemic Agents/therapeutic use
5.
J. pediatr. (Rio J.) ; 96(6): 732-740, Set.-Dec. 2020. tab
Article in English | ColecionaSUS, LILACS, ColecionaSUS, SES-SP | ID: biblio-1143191

ABSTRACT

Abstract Objective: To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence. Methods: Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow-up. Results: All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients. Conclusion In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time.


Resumo Objetivo: Avaliar os dados demográficos, o genótipo e o quadro clínico de pacientes pediátricos que apresentam síndrome da obstrução intestinal distal (DIOS) e os fatores associados à recidiva da DIOS. Métodos: Casuística de 10 pacientes (média de 13,2 anos) monitorados em um centro de referência e avaliados de forma retroativa. Os dados analisados incluíram idade, sexo, genótipo da fibrose cística, íleo meconial no nascimento, estado de hidratação, exacerbação pulmonar, colonização por Pseudomonas aeruginosa, insuficiência pancreática (IP), IMC nos episódios, manifestações clínicas da DIOS, estudos de diagnóstico por imagem realizados, manejo agudo da DIOS, terapia de manutenção e recidiva no acompanhamento. Resultados: Todos os pacientes apresentaram dois exames de cloreto no suor positivos e 09/10 também apresentaram estudo do genótipo. O genótipo mais comum identificado foi a homozigose da mutação delta F508. Em sete casos foi mencionado um histórico de íleo meconial. Todos os pacientes apresentaram insuficiência pancreática. O diagnóstico da DIOS teve como base achados clínicos e de imagem; 85% do número total de episódios foram tratados com sucesso com laxantes osmóticos orais e/ou terapia retal (enema de glicerina ou irrigação salina). A recidiva foi observada em 5 de 10 pacientes. Conclusão: Neste primeiro relatório da DIOS pediátrica na América do Sul, a presença de dois fatores de risco na ocorrência da DIOS foi universal: insuficiência pancreática e genótipo associado a doença grave. O histórico de íleo meconial no nascimento esteve presente na maioria dos pacientes, bem como no subgrupo com recidiva da DIOS. O diagnóstico dependeu principalmente do quadro clínico e do diagnóstico por imagem abdominal. As práticas de manejo de episódios variaram, provavelmente refletiram as mudanças no tratamento dessa síndrome ao longo do tempo.


Subject(s)
Humans , Child , Adolescent , Exocrine Pancreatic Insufficiency/diagnosis , Exocrine Pancreatic Insufficiency/etiology , Exocrine Pancreatic Insufficiency/therapy , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , South America , Retrospective Studies , Intestinal Obstruction/diagnosis , Intestinal Obstruction/etiology , Intestinal Obstruction/therapy
6.
Cad. Saúde Pública (Online) ; 36(10): e00049719, 2020. tab, graf
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1132824

ABSTRACT

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.


O Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo é um dos três centros de triagem da fibrose cística (FC) no estado de São Paulo, tendo incluído esse teste desde 6 de fevereiro de 2010, a partir de uma liminar judicial. O estudo avalia os primeiros cinco anos desse programa de triagem neonatal da FC. O Brasil adota o protocolo de triagem original, com o tripsinogênio imunorreativo (IRT)/IRT. Foram triados um total de 173.571 recém-nascidos, dos quais 1.922 (1,1%) mostraram IRT ≥ 70ng/mL. Destes, 1.795 (93,4%) tiveram amostras coletadas para IRT2, com resultados elevados (IRT2 ≥ 70ng/mL) em 102 deles (5,2%). Identificamos um total de 26 casos de FC durante esse período, inclusive 3 casos de FC que não foram detectados com a triagem neonatal. A incidência da FC foi de 1 caso em cada 6.675 recém-nascidos triados. A idade mediana na avaliação inicial foi 42 dias, comparável à idade de recém-nascidos triados com o protocolo IRT/DNA. Quase todos os lactentes com FC já exibiam algumas manifestações da doença durante o período neonatal. A mutação mais comum nos casos de FC foi a F508del. Os resultados em nosso centro indicam que a idade precoce no início do tratamento foi devido aos esforços do programa na implementação de uma busca ativa eficaz. Considerando os resultados falsos-negativos no programa de triagem neonatal para FC e o início precoce das manifestações clínicas da doença neste estudo, os pediatras devem estar cientes da possibilidade de diagnóstico de FC, mesmo em crianças com teste negativo.


El Hospital das Clínicas de la Facultad de Medicina de Ribeirão Preto, São Paulo Universidad es uno de los tres centros de cribado de fibrosis cística (FC) en el estado de São Paulo, incluyendo este test desde el 6 de febrero de 2010, debido a una medida cautelar judicial. El estudio evalúa los primeros cinco años de este programa de cribado neonatal de FC. Brasil adopta el protocolo de cribado original, con el tripsinógeno inmunorreactivo (TIR)/IRT. Se cribaron un total de 173.571 recién nacidos, de los cuales 1.922 (1,1%) mostraron IRT ≥ 70ng/mL. De estos, se obtuvieron 1.795 (93,4%) muestras recogidas para IRT2, con resultados elevados (IRT2 ≥ 70ng/mL) en 102 de ellos (5,2%). Identificamos un total de 26 casos de FC durante ese período, inclusive 3 casos de FC que no fueron detectados con el cribado neonatal. La incidencia de la FC fue de 1 caso por cada 6.675 recién-nacidos cribados. La edad media en la evaluación inicial fue 42 días, comparable a la edad de recién nacidos cribados con el protocolo IRT/DNA. Casi todos los lactantes con FC ya manifestaban algunos síntomas de la enfermedad durante el período neonatal. La mutación más común en los casos de FC era el F508del. Los resultados en nuestro centro indican que la edad precoz en el inicio del tratamiento se debía a los esfuerzos del programa en la implementación de una búsqueda activa eficaz. Considerando los resultados falsos-negativos en el programa de cribado neonatal para FC, y el inicio precoz de las manifestaciones clínicas de la enfermedad en este estudio, los pediatras deben ser conscientes de la posibilidad de diagnóstico de FC, incluso en niños con test negativo.


Subject(s)
Humans , Infant, Newborn , Infant , Child , Neonatal Screening , Cystic Fibrosis/diagnosis , Cystic Fibrosis/epidemiology , Trypsinogen , Brazil/epidemiology , Cystic Fibrosis Transmembrane Conductance Regulator
7.
Neumol. pediátr. (En línea) ; 15(4): 429-483, 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1146394

ABSTRACT

Cystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.


La Fibrosis Quística (FQ) es la enfermedad hereditaria de pronóstico reservado más frecuente en raza blanca. Desde el año 2003, Chile inicia un Programa Nacional de Fibrosis Quística, de carácter integral, dirigido por la Unidad de Salud Respiratoria del Ministerio de Salud. Hasta la fecha, los principales resultados del Programa registran una significativa mayor sobrevida (promedio 27 años) y una significativa reducción en la edad de diagnóstico de los pacientes ingresados desde 2006 en adelante. El acceso a la canasta GES (Garantías Explícitas en Salud), la implementación del tamizaje neonatal en algunas regiones del país, la organización y la constitución de equipos entrenados en FQ de diversas especialidades, ha contribuido a mejorar los resultados. Si bien las principales manifestaciones son del aparato respiratorio y digestivo, el carácter multisistémico de la FQ obliga a conocer los distintos aspectos involucrados en su manejo, a fin de optimizar los resultados del tratamiento y los recursos invertidos, tanto en el sector público como privado. Este documento es una revisión y actualización sobre los principales aspectos del diagnóstico, seguimiento y tratamiento de las manifestaciones respiratorias y no respiratorias de la FQ.


Subject(s)
Humans , Child , Adult , Delivery of Health Care, Integrated , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Chile , Nutritional Status , Cystic Fibrosis/rehabilitation , Consensus , Health Resources
8.
Ciênc. Saúde Colet ; 24(12): 4717-4726, dez. 2019. tab
Article in Portuguese | LILACS | ID: biblio-1055745

ABSTRACT

Resumo O objetivo deste artigo é avaliar a prevalência e os fatores associados à adesão a terapia de reposição enzimática em adolescentes com Fibrose cística. Estudo transversal, descritivo e observacional. Foram coletados dados sociodemográficos e clínicos. Os instrumentos utilizados para avaliar adesão foram: questionário de Morisky-Green e a dispensação de medicação na farmácia e para os fatores associados, entrevista com questionário estruturado. Foram entrevistados 44 adolescentes. Segundo o método de análise de dispensação da farmácia e o questionário de Morisky-Green, encontramos uma adesão de 45,5% e 11,4%, respectivamente. A maior adesão foi observada naqueles com diagnóstico precoce e a menor nos adolescentes mais velhos e nas meninas. Os fatores com a maior prevalência de não adesão foram: não levar as enzimas ao comer fora de casa, tomar enzimas somente nas grandes refeições, função pulmonar normal, com obstrução grave e muito grave. A prevalência de adesão a enzima foi pequena. Informações relacionadas à doença e ao tratamento devem ser aprimoradas, principalmente em adolescentes mais velhos e com comprometimento da função pulmonar, com criação de estratégias e estudos longitudinais para identificar fatores que interferem na adesão.


Abstract This article sets out to evaluate the prevalence and factors associated with adherence to enzyme replacement therapy among adolescents with cystic fibrosis. It is a cross-sectional, descriptive and observational study. Sociodemographic and clinical data were collected. The instruments used to assess adherence were: the Morisky-Green questionnaire and medication dispensation at the pharmacy, and interviews with structured questionnaires for the associated factors. Forty-four adolescents were interviewed. According to the method of the pharmacy medication dispensation analysis and the Morisky-Green questionnaire, the adherence of 45.5% and 11.4% was found, respectively. The higher adherence was observed in those with early diagnosis and the lowest in older adolescents and girls. The factors with the highest prevalence of non-adherence were: not taking enzymes when eating out of the home; only taking enzymes with major meals; normal lung function; with severe and very severe obstruction. The prevalence of adhesion to enzymes was low. Information related to the disease and treatment should be improved, especially among older adolescents and with impairment of lung function, with the creation of strategies and longitudinal studies to identify factors that interfere with adherence.


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Cystic Fibrosis/therapy , Medication Adherence/statistics & numerical data , Enzyme Replacement Therapy/statistics & numerical data , Cross-Sectional Studies , Surveys and Questionnaires , Cystic Fibrosis/diagnosis , Early Diagnosis
9.
J. pediatr. (Rio J.) ; 95(4): 443-450, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1040342

ABSTRACT

Abstract Objective: Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥ 60 mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration and sweat chloride concentration, and between saliva sodium concentration and sweat sodium concentration, in patients with cystic fibrosis and healthy control subjects, as a tool for cystic fibrosis diagnosis. Methods: There were 160 subjects enrolled: 57/160 (35.70%) patients with cystic fibrosis and two known CFTR mutations and 103/160 (64.40%) healthy controls subjects. Saliva ion concentration was analyzed by ABL 835 Radiometer® equipment and, sweat chloride concentration and sweat sodium concentration, respectively, by manual titration using the mercurimetric procedure of Schales & Schales and flame photometry. Statistical analysis was performed by the chi-squared test, the Mann -Whitney test, and Spearman's correlation. Alpha = 0.05. Results: Patients with cystic fibrosis showed higher values of sweat chloride concentration, sweat sodium concentration, saliva chloride concentration, and saliva sodium concentration than healthy controls subjects (p-value < 0.001). The correlation between saliva chloride concentration and sweat chloride concentration showed a positive Spearman's Rho (correlation coefficient) = 0.475 (95% CI = 0.346 to 0.587). Also, the correlation between saliva sodium concentration and sweat sodium concentration showed a positive Spearman's Rho = 0.306 (95% CI = 0.158 to 0.440). Conclusions: Saliva chloride concentration and saliva sodium concentration are candidates to be used in cystic fibrosis diagnosis, mainly in cases where it is difficult to achieve the correct sweat amount, and/or CFTR mutation screening is difficult, and/or reference methods for sweat test are unavailable to implement or are not easily accessible by the general population.


Resumo Objetivo: O diagnóstico da fibrose cística depende do valor da concentração de íons de cloreto no teste do suor (≥ 60 mEq/mL - reconhecido como o indicador-padrão para o diagnóstico da doença). Além disso, as glândulas salivares expressam a proteína RTFC igualmente às glândulas sudoríparas. Nesse contexto, nosso objetivo foi verificar a correlação da concentração de cloreto na saliva e a concentração de cloreto no suor e entre a concentração de sódio na saliva e a concentração de sódio no suor em pacientes com fibrose cística e indivíduos controles saudáveis, como uma ferramenta para diagnóstico de fibrose cística. Métodos: Contamos com a participação de 160 indivíduos [57/160 (35,70%) com fibrose cística e duas mutações no gene RTFC conhecidas e 103/160 (64,40%) indivíduos controles saudáveis]. A concentração de íons na saliva foi analisada pelo equipamento ABL 835 da Radiometer® e a concentração de cloreto no suor e sódio no suor, respectivamente, por titulação manual utilizando o método mercurimétrico de Schales & Schales e fotometria de chama. A análise estatística foi realizada pelo teste qui-quadrado, pelo teste de Mann-Whitney e pela correlação de Spearman. Alpha = 0,05. Resultados: Os pacientes com fibrose cística apresentaram maiores valores na concentração de cloreto no suor, concentração de sódio no suor, concentração de cloreto na saliva e concentração de sódio na saliva do que os indivíduos-controle saudáveis (valor de p < 0,001). A correlação entre as concentrações de cloreto na saliva e cloreto no suor mostrou Rho de Spearman (coeficiente de correlação) positivo = 0,475 (IC de 95% = 0,346 a 0,587). Além disso, a correlação entre concentração de sódio na saliva e concentração de sódio no suor mostrou Rho de Spearman positivo = 0,306 (IC de 95% = 0,158 a 0,440). Conclusões: A concentração de cloreto na saliva e a concentração de sódio na saliva são candidatas a ser usadas como diagnóstico de fibrose cística, principalmente em casos em que é difícil atingir a quantidade correta de suor, e/ou o exame da mutação RTFC é difícil e/ou o método de referência para o teste do suor não se encontra disponível ou não é de fácil acesso ao público em geral.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Young Adult , Saliva/chemistry , Sodium/chemistry , Sweat/chemistry , Chlorides/analysis , Cystic Fibrosis Transmembrane Conductance Regulator/analysis , Cystic Fibrosis/diagnosis , Sodium/metabolism , Biomarkers/analysis , Case-Control Studies , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Genotype
10.
Neumol. pediátr. (En línea) ; 14(2): 105-110, jul. 2019. graf, ilust, tab
Article in Spanish | LILACS | ID: biblio-1015136

ABSTRACT

Spirometry is better pulmonary function test for evaluating preschoolers with chronic lung disease and recurrent wheeze. It is useful, accessible and very good performance. For a correct interpretation it must be under the conditions specially controlled for this age group. In this review, product of the work done during the year 2018, by the Committee on pulmonary function in pediatric pulmonology Chilean society, will be showcased aspects for the realization and interpretation of spirometry in preschool children, with emphasis on the differences in the criteria typically described for older children and adults.


La espirometría es la prueba de función pulmonar más adecuada para evaluar a preescolares con enfermedades pulmonares crónicas y sibilancias recurrentes. Es útil, accesible y de buen rendimiento. Para una correcta interpretación debe realizarse bajo las condiciones especialmente normadas para este grupo etario. En esta revisión, producto del trabajo realizado durante el año 2018, por la comisión de función pulmonar de la sociedad Chilena de Neumología Pediátrica, se expondrán los aspectos actualizados para la realización e interpretación de la espirometría en preescolares, con énfasis en las diferencias de los criterios clásicamente descritos para niños mayores y adultos.


Subject(s)
Humans , Child, Preschool , Spirometry/methods , Respiratory Function Tests , Asthma/diagnosis , Asthma/physiopathology , Severity of Illness Index , Vital Capacity , Forced Expiratory Volume , Cystic Fibrosis/diagnosis , Cystic Fibrosis/physiopathology , Lung Diseases/diagnosis , Lung Diseases/physiopathology
11.
Neumol. pediátr. (En línea) ; 14(2): 86-91, jul. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-1015004

ABSTRACT

Bronchiectasis is a suppurative lung disease with heterogeneous phenotypic characteristics. It is defined as abnormal dilation of the bronchi, losing the existing relationship between bronchial sizes and accompanying artery. According to their form, they can be cylindrical, varicose, saccular or cystic. According to its location, they could be diffuse or localized. The diagnosis of bronchiectasis is usually suspected in patients with chronic cough, mucopurulent bronchorrea, and recurrent respiratory infections. The etiology can be varied, being able to classify in cystic fibrosis bronchiectasis, when there is cystic fibrosis transmembrane regulator (CFTR) gene mutation and not cystic fibrosis, being post infectious the most frequent. Its relationship with childhood is unknown. Severe respiratory infections can predispose in a susceptible subject the so-called theory of the "vicious circle" and the development of these. Persistent bacterial bronchitis in children has been described as a probable cause of not cystic fibrosis bronchiectasis in adults. The treatment is based on the management of symptoms and the prevention of exacerbations. The evidence is poor and many treatments are extrapolated from cystic fibrosis bronchiectasis. We are going to describe the diagnostic and therapeutic approach of non-cystic fibrosis bronchiectasis in adults.


La bronquiectasia es una enfermedad pulmonar supurativa con características fenotípicas heterogéneas. Se define como la dilatación anormal de los bronquios, perdiendo la relación existente entre tamaño bronquial y arteria que acompaña. Según su forma, pueden ser clasificadas en cilíndricas, varicosas, saculares o quísticas y según su etiología presentarse de forma difusa o localizada. El diagnóstico de bronquiectasias se sospecha generalmente en pacientes con tos crónica, broncorrea mucosa, mucupurulenta e infecciones respiratorias recurrentes. La etiología es variada, pudiendo clasificarse en bronquiectasias fibrosis quística, aquellas que se encuentran en el contexto de la mutación del gen regulador transmembrana de fibrosis quística (CFTR) y no fibrosis quística, de etiologías diversas, siendo post infecciosas la gran mayoría. No se conoce con certeza su relación con la infancia, es sabido que infecciones respiratorias severas pueden predisponer en un sujeto susceptible, a la llamada teoría del "circulo vicioso" y el desarrollo de estas. La bronquitis bacteriana persistente en niños se ha descrito como una causa probable del desarrollo de bronquiectasias no fibrosis quística en adultos. El tratamiento se basa en el manejo de los síntomas y la prevención de las exacerbaciones. La evidencia es escasa y la mayoría de las terapias se han investigado en las bronquiectasias tipo fibrosis quística. En este trabajo se explicará el enfrentamiento diagnóstico y terapéutico de los adultos portadores de bronquiectasias no fibrosis quística.


Subject(s)
Humans , Male , Child , Adult , Aspergillosis, Allergic Bronchopulmonary/diagnosis , Aspergillosis, Allergic Bronchopulmonary/therapy , Bronchiectasis/physiopathology , Bronchiectasis/therapy , Cystic Fibrosis/diagnosis , Aspergillosis, Allergic Bronchopulmonary/diagnostic imaging , Bronchiectasis/diagnosis , Bronchiectasis/etiology , Bronchiectasis/epidemiology , Radiography, Thoracic , Macrolides/therapeutic use , Cystic Fibrosis/therapy , Cystic Fibrosis/epidemiology , Anti-Bacterial Agents/therapeutic use
12.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 37(1): 58-64, Jan.-Mar. 2019. tab, graf
Article in Portuguese | LILACS | ID: biblio-985137

ABSTRACT

RESUMO Objetivo: Avaliar o perfil nutricional da população atendida em centro de referência em fibrose cística. Métodos: Estudo transversal incluindo pacientes com fibrose cística de um centro pediátrico de referência de São Paulo, em 2014. Todos os sujeitos que concordaram em participar do estudo foram incluídos. Foi aplicado um questionário sobre hábitos alimentares (recordatório de 24 horas) e características socioeconômicas. Dados antropométricos (comparados com referencial da Organização Mundial da Saúde de 2006 e 2007) e função pulmonar foram coletados do prontuário. Os integrantes da pesquisa foram estratificados em faixas etárias para análise estatística. Resultados: Dos 101 pacientes incluídos no estudo, 59,4% eram masculinos, sendo a maioria caucasiana (86,4%), com mediana de idade de 10 anos. A maioria dos pacientes (n=77, 75%) foi classificada como eutrófica, mas valores menores de escore Z de índice de massa corpórea (IMC) foram observados em escolares e adolescentes. A proporção de pacientes com peso abaixo do esperado foi de 10% (n=2) na faixa etária pré-escolar e de 35% (n=6) em escolares. O consumo alimentar mostrou-se adequado, e somente dois suplementos (triglicérides de cadeia média e suplemento em pó completo) tiveram utilização ligada à adequação da ingesta de macronutrientes. Características socioeconômicas não apresentaram associação com o estado nutricional ou com o consumo nutricional. Valores de função pulmonar não apontaram diferença significante em adolescentes nem em indivíduos com pior estado nutricional no grupo estudado. Conclusões: A maioria dos pacientes apresentou estado nutricional e consumo alimentar adequados, indicando bom manejo das ações nutricionais. Novos estudos com foco em pré-escolares devem ser realizados para avaliar se é possível reduzir o risco nutricional de pacientes com fibrose cística em idades posteriores.


ABSTRACT Objective: To evaluate the nutritional profile of the population assisted at a reference center for cystic fibrosis treatment. Methods: Cross-sectional study including patients with cystic fibrosis assisted at a pediatric reference center in São Paulo, Brazil, in 2014. All patients attending regular visits who agreed to participate in the study were included. A questionnaire on dietary habits (24-hour diet recall) and socioeconomic characteristics was applied. Anthropometric data (compared with the reference from the World Health Organization, 2006 and 2007) and pulmonary function data were collected from medical records. Patients were stratified into age groups for statistical analysis. Results: A total of 101 patients were included in the study (59.4% male, 86.4% Caucasian), with median age of 10 years old. Most patients (n=77; 75%) were classified as eutrophic, but lower values of body mass index (BMI) Z scores were observed in schoolchildren and adolescents. The proportion of underweight patients was 10% (n=2) among preschoolers and 35% (n=6) of the school age group. Dietary intake was adequate, and the use of only two supplements (medium chain triglycerides and complete powdered supplement) was associated with adequacy of macronutrient intake. The socioeconomic characteristics did not show any statistical association with the nutritional state or nutritional consumption. Lung function was not significantly different between neither adolescents nor individuals with worse nutritional status in this sample. Conclusions: Most of the patients presented adequate nutritional status and adequate consumption of calories and macronutrients, indicating appropriate nutritional management. New studies focusing on preschool children should be performed to assess if it is possible to reduce the nutritional risk of patients with cystic fibrosis at older ages.


Subject(s)
Humans , Male , Female , Child , Anthropometry/methods , Nutritional Status , Feeding Behavior , Respiratory Function Tests/methods , Respiratory Function Tests/statistics & numerical data , Brazil/epidemiology , Energy Intake , Body Mass Index , Food , Cross-Sectional Studies , Surveys and Questionnaires , Age Distribution , Cystic Fibrosis/diagnosis , Cystic Fibrosis/physiopathology
13.
Rev. Assoc. Med. Bras. (1992) ; 64(11): 1032-1037, Nov. 2018. tab, graf
Article in English | LILACS | ID: biblio-976796

ABSTRACT

SUMMARY OBJECTIVE: to assess the progression of pediatric cystic fibrosis (CF) patients' nutritional status during the first 12 months after diagnosis and to establish its association with neonatal screening and clinical variables. Patients were recruited from two reference centers in Southern Brazil. METHODS: Retrospective cohort study was carried out with all the patients diagnosed between 2009 and 2014. Anthropometric, clinic and neonatal screening were collected from medical files. Analysis of anthropometric markers over time was performed by generalized estimating equations. A multivariate regression analysis model to predict the Δ percentile body mass index (BMI) (BMI percentile difference between one year after the treatment and BMI percentile at diagnosis) was done. RESULTS: Forty-seven patients were included in the study. Analysis of nutritional data over the period between six months and one year after diagnosis showed significant improvement of BMI, weight/age and weight/height percentiles and Z scores. The neonatal screening was associated with a significant increase of 31.2 points in ΔBMI percentile at the one-year evaluation (p<0.05). On the other hand, a one-point increase of initial BMI percentile was associated with a reduction of 0.6 points in ΔBMI percentile. CONCLUSION: This study demonstrated the role of neonatal screening in the nutritional status of patients diagnosed with CF in the first year after diagnosis. Early diagnosis can significantly contribute to the achievement of appropriate anthropometric indicators and important nutritional recovery of CF patients.


RESUMO OBJETIVO: Avaliar a evolução do estado nutricional de pacientes pediátricos com fibrose cística (FC), provenientes de dois centros de referência do sul do Brasil, durante os 12 primeiros meses após o diagnóstico e estabelecer associação com a triagem neonatal e com variáveis clínicas. MÉTODOS: Estudo de coorte retrospectivo realizado com todos os pacientes diagnosticados entre 2009 e 2014. Foram coletados dados antropométricos, clínicos e de realização da triagem neonatal a partir dos prontuários dos pacientes. A análise dos indicadores antropométricos ao longo do tempo foi realizada por equações de estimativas generalizadas. Utilizou-se o modelo de análise de regressão multivariada para predizer o D percentil índice de massa corporal - IMC/I (diferença entre percentil de IMC/I um ano após o tratamento e percentil de IMC/I no momento do diagnóstico). RESULTADOS: Participaram do estudo 47 pacientes. A análise dos dados antropométricos ao longo do período de seis meses e um ano após o diagnóstico demonstrou melhora significativa dos parâmetros de percentil e escore Z de IMC/I, peso/idade e peso/estatura em cada período analisado. A realização da triagem neonatal foi associada com um aumento significativo de 31,2 pontos no Δ percentil de IMC/I durante o período de um ano (p<0,05). Por outro lado, um ponto a mais de percentil de IMC/I inicial foi associado com uma redução de 0,6 ponto no Δ percentil de IMC/I (p<0,01). CONCLUSÃO: O presente estudo evidencia o papel da triagem neonatal na evolução antropométrica de pacientes com FC no primeiro ano após o diagnóstico. O diagnóstico precoce pode contribuir significativamente para a recuperação nutricional desses pacientes.


Subject(s)
Humans , Male , Female , Infant, Newborn , Child, Preschool , Nutritional Status , Neonatal Screening/methods , Cystic Fibrosis/diagnosis , Nutrition Disorders/diagnosis , Body Height , Body Weight , Brazil , Body Mass Index , Anthropometry , Retrospective Studies , Cystic Fibrosis/complications , Nutrition Disorders/etiology , Nutrition Disorders/prevention & control
14.
Rev. chil. pediatr ; 89(3): 332-338, jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-959530

ABSTRACT

INTRODUCCIÓN: El pronóstico de los pacientes con fibrosis quística (FQ) ha mejorado en forma notable. La evaluación de la progresión de la enfermedad se basa en la medición del Volumen Espirado al primer segundo (VEF1). OBJETIVOS: 1. Describir volúmenes y flujos espiratorios forzados y comparar su interpretación según diferentes patrones de referencia (Knudson, multiétnicas Global Lung Initiative, Gutiérrez); 2. Comparar evolución de VEF1 según diferentes patrones de referencia; 3. Describir respuesta a broncodilatador. PACIENTES Y MÉTODO: Estudio retrospectivo de fichas clínicas y espirometrías de pacientes con FQ controlados en Hospital Dr. Sótero del Río. Se obtuvo antecedentes demográficos, resultados de prueba de sudor, estudio genético, estudio bacteriológico. Se evaluó respuesta a broncodilatador (salbutamol 400 ugr), considerando significativo un aumento en 12% en el VEF1. El valor de cloro en sudor se obtuvo mediante método de Gibson y Cooke. Se registraron: Capacidad Vital Forzada (CVF), Volumen Espirado al primer segundo (VEF1) y relación VEF1/CVF. Para graficar la progresión del VEF1 en el tiempo y las curvas teóricas de GLI, Knudson y Gutiérrez, se utilizó el software de libre distribución R versión 3.3.1. RESULTADOS: Se incluyeron 14 pacientes, 7 varones, edad entre 6 y 24 años, mediana 15 años, me diana índice de masa corporal (IMC) 18,15 (rango 14,6-23,3), mediana cloro en sudor 76 mEq/l (rango 50,2- 119), 7 pacientes con al menos 1 mutación F508del. Al utilizar fórmulas predictivas multiétnicas y de Gutiérrez, el compromiso de la función pulmonar ocurría con anterioridad en relación al uso de ecuaciones de Knudson. Ninguno de los pacientes presentó respuesta significativa a broncodilatador. CONCLUSIÓN: El grupo de pacientes descritos presenta en su mayoría compromiso funcional respiratorio y no tiene respuesta a broncodilatador. La interpretación del compromiso funcional respiratorio varía según los valores teóricos utilizados.


INTRODUCTION: The prognosis of patients with cystic fibrosis (CF) has remarkably improved. The as sessment of the disease progression is based on the measurement of the FEV1 (Forced Expiratory Volume in one second). OBJECTIVES: 1. To describe forced expiratory flows and volumes and com pare their interpretation according to different reference standards (Knudson, Gutiérrez, and multi ethnic GLI); 2. To describe bronchodilator response. Patients and Method: The medical records and spirometries of all patients with CF controlled at the Dr. Sotero del Rio Hospital were reviewed. Demographic background, sweat test results, genetic study , and bacteriological study were obtained. In addition, Forced Vital Capacity (FVC) was recorded as well as FEV1 and FEV1/FVC ratio. RESULTS: Data from 14 patients, were analyzed, seven males, aged 6-24 years, median 15 years, median BMI 18.15 (range 14.6-23.3), median sweat chloride test 76 mEq/l (range 50,2-119 mEq/l), seven patients with at least one F508del mutation. Using multi-ethnic and Gutierrez predictive formulas, lung function involvement occurred previously in relation to the use of Knudson equations. None of the patients had a significant bronchodilator response. CONCLUSION: The group of patients descri bed mostly presents functional respiratory involvement and had no bronchodilator response. The interpretation of functional respiratory involvement varies according to the theoretical values used.


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Spirometry/standards , Bronchodilator Agents/therapeutic use , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Reference Standards , Vital Capacity , Forced Expiratory Volume , Retrospective Studies , Follow-Up Studies , Treatment Outcome
15.
Sci. med. (Porto Alegre, Online) ; 28(2): ID29566, abr-jun 2018.
Article in Portuguese | LILACS | ID: biblio-909633

ABSTRACT

OBJETIVOS: Comparar dados clínicos, laboratoriais e espirométricos de pacientes pré-escolares (idade entre três e seis anos) com fibrose cística, identificados pela alteração do tripsinogênio imunorreativo no teste de triagem neonatal (grupo IRT) com os dados de pacientes cuja suspeita diagnóstica ocorreu a partir de sinais e sintomas clínicos (grupo DC). MÉTODOS: Estudo do tipo coorte retrospectiva, com amostra obtida a partir dos prontuários dos pacientes que faziam acompanhamento ambulatorial especializado e multidisciplinar. Todas as crianças incluídas tinham diagnóstico confirmado de fibrose cística por teste de eletrólitos no suor e/ou sequenciamento genético. Como variáveis incluíram-se sexo, peso, altura, índice de massa corporal, número de internações por ano, colonização por Pseudomonas aeruginosa, presença de insuficiência pancreática e escore de Shwachman. Este escore abrange quatro domínios: atividade geral, nutrição, exame radiológico e avaliação física, cada um pontuado entre 5 e 25 pontos, sendo que o escore ≤40 pontos indica estado grave e ≥86 pontos excelente estado. Para comparação da função pulmonar utilizaram-se os dados da última espirometria realizada antes dos seis anos de idade. Os desfechos foram comparados por qui-quadrado ou teste t de Student, com limite de significância de 0,05. RESULTADOS: Foram incluídos no estudo 24 pacientes, sete no grupo IRT e 17 no grupo DC. As crianças do grupo IRT iniciaram acompanhamento com média de idade de 1,51±2,04 meses e as do grupo DC com 3,77±1,80 meses (p=0,014). A média do escore de Shwachman foi 94,40±2,19 nos pacientes do grupo IRT vs. 87,67±8,00 no grupo DC (p=0,018). A média do escore Z para o índice de massa corporal foi 0,95±1,02 no grupo IRT vs. 0,51±1,05 no grupo DC (p=0,051). Foram encontrados valores ligeiramente superiores nas variáveis espirométricas no grupo IRT, sem diferença estatisticamente significativa entre os grupos. CONCLUSÕES: Os resultados sugerem que os pacientes diagnosticados com fibrose cística a partir da suspeita pelo teste de triagem neonatal beneficiaram-se de uma intervenção precoce, podendo iniciar os testes de função pulmonar e receber tratamento e orientações mais cedo. A avaliação de parâmetros clínicos com o escore de Shwachman mostrou que os benefícios puderam ser observados já na idade pré-escolar.


AIMS: To compare clinical, laboratory and spirometric parameters of preschoolers (ages from three to six years old) with cystic fibrosis identified by abnormal newborn screening test (NS group), with data of patients whose diagnostic suspicion arose from characteristic clinical signs and symptoms (CS group). METHODS: Retrospective cohort study, with a sample obtained from the medical charts of patients who received specialized and multidisciplinary outpatient follow-up. All the included children had a confirmed diagnosis of cystic fibrosis by sweat electrolyte testing and/ or genetic sequencing. Variables included sex, weight, height, body mass index, number of hospitalizations per year, Pseudomonas aeruginosa colonization, presence of pancreatic insufficiency and Shwachman score, which covers four domains: general activity, nutrition, radiological examination and physical evaluation, each one scored between 5 and 25 points. A total score ≤40 points indicates severe state, and ≥86 points indicates excellent state. For comparison of pulmonary function, data from the last spirometry performed before the age of six years were used. Outcomes were compared by chi-square or Student's t test, with a significance limit of 0.05. RESULTS: Twenty-four patients were included in the study, seven children in the NS group and 17 children in the CS group. The children of the NS group started follow-up with a mean age of 1.51±2.04 months, and those of the CS group started with 3.77±1.80 months (p=0.014). The mean Shwachman score was 94.40±2.19 in the NS vs. 87.67±8.00 in the CS group (p=0.018). The mean Z score for body mass index was 0.95±1.02 in the NS group vs. 0.51±1.05 in the CS group (p=0.051). Spirometric variables had slightly higher values in the NS group, with no statistically significant difference between groups. CONCLUSIONS: The results suggest that those patients diagnosed with cystic fibrosis from the neonatal screening test suspicion benefited from an early intervention, being able to initiate pulmonary function tests and receive treatment and counseling earlier. Evaluation of clinical parameters with the Shwachman score showed that benefits could be already observed at the preschool age.


Subject(s)
Cystic Fibrosis , Cystic Fibrosis/diagnosis , Neonatal Screening , Child , Child Nutrition , Spirometry
16.
Braz. j. oral sci ; 17: e18160, 2018. tab
Article in English | LILACS, BBO | ID: biblio-970564

ABSTRACT

The oral health in patients with cystic fibrosis (CF) is not well studied. Aim: In this context, we describe the frequency of dental problems and performed the description of plaque index and gingival index in patients with CF. Methods: We performed a descriptive study about oral health enrolling 94 patients with CF. Results: The CF diagnosis was done considering the sweat test with chloride values ≥ 60 mmol/L. The permanent dentition was predominant in 57/94 (60.64%) patients with CF ­ 28/57 (49.12%) caries, 57/57 (100%) filled teeth and 1/57 (1.75%) missing tooth. Deciduous teeth occurred in 37/94 (39.36%) patients with CF ­ 22/37 (59.46%) carious, 29/37 (78.38%) exfoliated teeth, 20/37 (54.05%) filled teeth. Also, the plaque index and gingival index had scored less than one in many cases (≥ 50% of the cases). Conclusions: Patients with CF showed oral health problems with prevalence comparable to that of the normal population and low values in the plaque index and gingival index


Subject(s)
Humans , Male , Female , Periodontal Index , Dental Plaque Index , Oral Health , Cystic Fibrosis/diagnosis , Dental Caries/epidemiology
17.
J. bras. pneumol ; 43(3): 219-245, May-June 2017. tab, graf
Article in English | LILACS | ID: biblio-893829

ABSTRACT

ABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.


RESUMO A fibrose cística (FC) é uma doença genética autossômica recessiva caracterizada pela disfunção do gene CFTR. Trata-se de uma doença multissistêmica que ocorre mais frequentemente em populações descendentes de caucasianos. Nas últimas décadas, diversos avanços no diagnóstico e tratamento da FC mudaram drasticamente o cenário dessa doença, com aumento expressivo da sobrevida e qualidade de vida. Atualmente, o Brasil dispõe de um programa de ampla cobertura para a triagem neonatal de FC e centros de referência distribuídos na maior parte desses estados para seguimento dos indivíduos. Antigamente confinada à faixa etária pediátrica, tem-se observado um aumento de pacientes adultos com FC tanto pelo maior número de diagnósticos de formas atípicas, de expressão fenotípica mais leve, assim como pelo aumento da expectativa de vida com os novos tratamentos. Entretanto, ainda se observa uma grande heterogeneidade no acesso aos métodos diagnósticos e terapêuticos para FC entre as diferentes regiões brasileiras. O objetivo dessas diretrizes foi reunir as principais evidências científicas que norteiam o manejo desses pacientes. Um grupo de 18 especialistas em FC elaborou 82 perguntas clínicas relevantes que foram divididas em cinco categorias: características de um centro de referência; diagnóstico; tratamento da doença respiratória; tratamento gastrointestinal e nutricional; e outros aspectos. Diversos profissionais brasileiros atuantes na área da FC foram convidados a responder as perguntas formuladas pelos coordenadores. A literatura disponível foi pesquisada na base de dados PubMed com palavras-chave, buscando-se as melhores respostas às perguntas dos autores.


Subject(s)
Humans , Male , Female , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Practice Guidelines as Topic , Age Factors , Brazil , Evidence-Based Medicine , Nutritional Status , Physical Therapy Modalities , Quality of Life
18.
Rev. Asoc. Méd. Argent ; 130(2): 4-8, jun. 2017. tab
Article in Spanish | LILACS | ID: biblio-973071

ABSTRACT

OBJETIVOS: El presente trabajo tiene por objetivo presentar el perfil genético de enfermos fibroquísticos de la Provincia de Mendoza. Pacientes y método: Se estudiaron 105 pacientes derivados del Centro de Fibrosis Quística con diagnóstico clínico o test del sudor positivo. TÉCNICA: INNO-LIPA-CFTR 19 e INNOLIPACFTR17; amplificación genómica mediante PCR multiplex con sondas alelo-específicas. RESULTADOS: Se encontraron 18 mutaciones diferentes causantes de fibrosis quística. El 33,3% corresponde a la F508del; N1303K = 8,5%; G542X = 6,2%; W122X = 3,3%. Se detectó la mutación “africana” 3.120 + 1G > A en el 2,8% de los casos. CONCLUSIÓNES: nuestra prevalencia y espectro de mutaciones en fibrosis quística difieren de otras publicadas en el país. El hallazgo de mutaciones reportadas con mayor frecuencia en países africanos sugiere que nuestra población tiene influencias étnicas diferentes. Se discuten las imprecisiones diagnósticas que han generado en pequeños grupos de enfermos los nuevos avances de laboratorio en genética: enfermos “SMAF-Q Y PAF-Q” (explicación en el texto).


OBJECTIVE: To present the genetic background of Cystic Fibrosis Patients from the Province of Mendoza, Argentina. Patients and method: 105 patients were studied during 10 years. referred from a Cystic Fibrosis Center to the genetic laboratory. Cystic Fibrosis phenotype and /or abnormal sweat test were the referral reasons. TECHNIQUE: INNO-LIPA-CFTR19 and INNOLIPA CFTR 17, genome amplification through PCR multiplex with allele specific probes were used. RESULTS: 18 different mutations were detected F508 del frequency was 33.3%; N1303K: 8.5%; G542X: 6.2%; W122X: 3.3%. The “African” mutation 3120 + 1G > A was found in 2.8% of cases. CONCLUSIONS: Our prevalence of Cystic Fibrosis mutations differs markedly from others reported in our Country. African mutation detection suggests a different ethnic origin for our population. We discuss a small group of patients where genetic studies seem to have created diagnostic difficulties (metabolic syndrome and cystic fibrosis associated pathology).


Subject(s)
Humans , Adolescent , Adult , Infant , Child, Preschool , Child , Young Adult , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Genetic Testing/methods , Early Diagnosis , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Argentina
19.
J. bras. pneumol ; 43(2): 121-128, Mar.-Apr. 2017. graf
Article in English | LILACS | ID: biblio-841281

ABSTRACT

ABSTRACT Objective: The sweat test (ST) measures chloride levels in sweat and is considered the gold standard for the diagnosis of cystic fibrosis (CF). However, the reliability of a ST depends on their being performed by experienced technicians and in accordance with strict guidelines. Our aim was to evaluate how sweat stimulation, sweat collection, and chloride measurement are performed at 14 centers (9 public centers and 5 private centers) that routinely perform STs in the state of São Paulo, which has the highest frequency of CF in Brazil. Methods: This was a cross-sectional cohort study, using a standardized questionnaire administered in loco to the staff responsible for conducting STs. Results: No uniformity regarding the procedures was found among the centers. Most centers were noncompliant with the international guidelines, especially regarding the collection of sweat (the samples were insufficient in 10-50% of the subjects tested); availability of stimulation equipment (which was limited at 2 centers); modernity and certification of stimulation equipment (most of the equipment having been used for 3-23 years); and written protocols (which were lacking at 12 centers). Knowledge of ST guidelines was evaluated at only 1 center. Conclusions: Our results show that STs largely deviate from internationally accepted guidelines at the participating centers. Therefore, there is an urgent need for standardization of STs, training of qualified personnel, and acquisition/certification of suitable equipment. These are essential conditions for a reliable diagnosis of CF, especially with the increasing demand due to newborn screening nationwide, and for the assessment of a possible clinical benefit from the use of modulator drugs.


RESUMO Objetivo: O teste do suor (TS) mede os níveis de cloro no suor e é considerado o padrão ouro para o diagnóstico da fibrose cística (FC). Contudo, a confiabilidade do TS depende de sua realização por técnicos experientes e segundo diretrizes rígidas. Nosso objetivo foi avaliar como são realizadas a estimulação e coleta do suor e a dosagem de cloro em 14 centros (9 públicos e 5 privados) que realizam TS rotineiramente no estado de São Paulo, que possui a maior frequência de FC do Brasil. Métodos: Estudo de coorte transversal utilizando um questionário padronizado aplicado in loco ao pessoal responsável pela realização dos TS. Resultados: Não houve uniformidade entre os centros quanto aos procedimentos. A maioria dos centros não era aderente às diretrizes internacionais, especialmente quanto à coleta do suor (amostras insuficientes em 10-50% dos indivíduos testados), disponibilidade de equipamentos de estimulação (limitada em 2 centros), modernidade e certificação dos mesmos (a maioria utilizada há 3-23 anos) e protocolos escritos (ausentes em 12 centros). Avaliou-se o conhecimento sobre diretrizes para TS em apenas 1 centro. Conclusões: Nossos resultados mostram que, nos centros participantes, os TS estão muito distantes das diretrizes internacionalmente aceitas. Portanto, há necessidade urgente de padronização dos TS, de treinamento de pessoal qualificado e de aquisição/certificação de equipamentos adequados. Essas são condições essenciais para um diagnóstico confiável de FC, especialmente com a crescente demanda resultante da triagem neonatal em todo o país, e para a avaliação do possível benefício clínico do uso de moduladores.


Subject(s)
Humans , Chlorides/analysis , Clinical Laboratory Techniques/standards , Cystic Fibrosis/diagnosis , Diagnostic Tests, Routine , Sodium/analysis , Sweat/chemistry , Brazil , Clinical Laboratory Techniques/statistics & numerical data , Cohort Studies , Cross-Sectional Studies , Cystic Fibrosis/prevention & control , Health Knowledge, Attitudes, Practice , Private Facilities , Public Facilities , Reproducibility of Results , Surveys and Questionnaires
20.
Neumol. pediátr. (En línea) ; 11(1): 10-14, ene. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-789390

ABSTRACT

Newborn screening for cystic fibrosis is a public health strategy that as been associated with early improved nutrition and survival, and the potential for preventing severe health problems. Various protocols have been employed, being the measurement of immunoreactive trypsynogen (IRT) in the first few days of life the first step in all of them. The second tier can include IRT/IRT, IRT/DNA, IRT/PAP (pancreatitis associated protein). Protocol selection depends on the priorities for each country but at present there is no optimal strategy.


El tamizaje neonatal para fibrosis quística es una estrategia de salud pública que ha demostrado beneficios nutricionales, aumento de la sobrevida y potencialmente prevención de problemas severos de salud. En el mundo se usan variados protocolos, sin embargo en todos el primer paso es la determinación de tripsinógeno inmunorreactivo (IRT) en sangre, tomado del talón del recién nacido. El segundo paso incluye la determinación de un segundo IRT o determinación de DNA o PAP (Proteína asociada a pancreatitis). La selección del protocolo a seguir depende de cada país pero hasta ahora no hay una estrategia óptima.


Subject(s)
Humans , Infant, Newborn , Cystic Fibrosis/diagnosis , Cystic Fibrosis/epidemiology , Neonatal Screening/methods , Chile , Clinical Protocols , False Negative Reactions , Global Health , Trypsinogen
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