Características clínicas y resultados de pacientes con fibrosis quística con enfermedad pulmonar avanzada: experiencia en 10 años del Instituto Nacional del Tórax / Clinical features and outcomes of cystic fibrosis patients with advanced lung disease: experience of 10 years at the Instituto Nacional del Tórax

La enfermedad pulmonar avanzada (EPAV) es la principal causa de morbimortalidad en pacientes con Fibrosis Quística (FQ). Objetivo: describir características clínicas de pacientes con FQ con EPAV y mortalidad en el seguimiento. Método: Estudio descriptivo, retrospectivo de pacientes con FQ y EPAV: VEF1 4 años de vida. Un 75% era portador de infección crónica por Pseudomonas. Un 68% era dependiente de oxígeno y un 18% de ventilación mecánica no invasiva. El 70 % tuvo 2 o más hospitalizaciones el último año de seguimiento. De 27 pacientes derivados a trasplante, 7 se trasplantaron, 3 fallecieron en lista para trasplante, 9 presentaron alguna contraindicación: 4 de ellos por desnutrición y 5 por mala adherencia y escasa red de apoyo. En el seguimiento un 32% (n = 14) falleció, 93% de causa respiratoria. Conclusión: Un 39% de los pacientes tenían EPAV cuyo diagnóstico de FQ en promedio fue a los 11,2 años (SD ± 13 a). Las barreras de ingreso a lista para trasplante fueron: desnutrición, mala adherencia y falta de red de apoyo. Esta es una población con una elevada mortalidad.

Advanced cystic fibrosis lung disease (ACFLD) is the leading cause of morbidity and mortality in patients with Cystic Fibrosis (CF). Objective: to describe clinical characteristics of patients with CF with ACFLD and mortality during follow-up. Method: Descriptive, retrospective study of patients with CF and ACFLD: FEVi < 40%, oxygen dependent, and/or referred to a lung transplantprogram. Clinical, microbiological, functional, genetic and mortality characteristics were collected. Results: Of 111 controlled patients, 39% met criteria for ACFLD. 52% were men and the mean age was 29,8 years- old. The average BMI was 19.9 kg/m2, 72% had pancreatic insufficiency and 87% had a genetic study, being the DF508 mutation the most frequent (67%). The average age of diagnosis was 11.2 years (SD ± 13 years), being in 54,5% over the age of 4 years. 75% had chronic Pseudomonas infection. 68% were oxygen dependent and 18% on noninvasive mechanical ventilation. In the last year of follow-up 70% had 2 or more hospitalizations. Of 27 patients who have been referred for transplantation, 7 underwent lung transplantation, 3 died waiting on the transplant list, 9 had contraindications: 4 due to malnutrition and 5 to poor adherence and poor support network. 32% (n = 14) of the ACFLD patients died, 93% due to respiratory causes. Conclusion: 39% of the patients had ACFLD. The average age for CF diagnosis was 11.2 years (SD ± 13 years) Barriers to entering the transplant list are: malnutrition, poor adherence, and lack of a support network. This is a population with a high mortality.

Tendencia de la mortalidad por fibrosis quística en Chile, 1997-2017 / Cystic fibrosis mortality trend in chile, 1997-2017

Introducción. La Fibrosis Quística es la enfermedad hereditaria con pronóstico reducido más frecuente en raza blanca. Su incidencia varía según etnias. En Chile, la incidencia estimada es de 1/10.000 habitantes y la evidencia nacional acerca de la magnitud y caracterización de defunciones es escasa. El objetivo de este estudio es determinar la evolución de mortalidad por fibrosis quística en Chile durante 1997-2017. Materiales y Métodos. Estudio descriptivo retrospectivo sobre la tendencia de mortalidad por fibrosis quística en Chile. A partir de bases de datos secundarias del sistema de estadísticas de mortalidad del país, se analizó la cohorte de fallecidos registrado en el certificado de defunción como fibrosis quística. Se calcularon tasas de mortalidad crudas y ajustadas para todos los años observados. Se realizó un análisis para las defunciones en menores 40 años; según las variables sexo, edad y región. Se estimó el cambio porcentual anual utilizando el programa Joinpoint-Regression. Resultados. Se registraron 198 defunciones (49% mujeres). La edad media y mediana de defunción aumentaron progresivamente, desde 1997-2001 con media 8,5 y mediana 6 años a 2013-2017 con media 19,6 y mediana 20 años (p-valor<0,05). La tasa de mortalidad en los menores de 1 año presentó una tendencia decreciente con un cambio porcentual anual de - 32,5%, estadísticamente significativo. La región de Atacama presentó un riesgo de muerte 6,12 veces mayor que el promedio del país. Discusión. En Chile, la edad de defunción por fibrosis quística ha aumentado progresivamente y la mortalidad en los <1 año ha disminuido a lo largo de los últimos años.

Introduction. Cystic Fibrosis is the most frequent hereditary disease in whites, with a reduced prognosis. Its incidence varies by ethnicity. In Chile, the estimated incidence is 1/10,000 inha-bitants and national evidence regarding the magnitude and characterization of deaths is scarce.The aim of this study es to describe the evolution of cystic fibrosis mortality in Chile during 1997-2017. Materials and Methods. Retrospective descriptive study on the mortality trend due to cystic fibrosis in Chile. From secondary databases of the country's mortality statistics system, the cohort of deceased due to cystic fibrosis, as registered in the death certificate was analyzed. Crude and adjusted mortality rates were calculated for all observed years. An analysis was performed for deaths in persons younger 40 years; according to the variables of sex, age and region. The annual percentage change was estimated using the Joinpoint-Regression program.Results. 198 deaths were registered (49% women). For those younger than 40 years at the time of death, the mean and median age of death increased progressively, from mean 8.5 and median 6 years in 1997 to 2001 to a mean of 19.6 and median of 20 years in 2013-2017 (p-value <0.05). The mortality rate in under 1 year of ages presented a decreasing trend with an annual percentage change of -32.5%. The Atacama region presented a risk of death 6.12 times higher than the country's average.Discussion. In Chile, the age of death due to cystic fibrosis has progressively increased and mortality in <1 year has decreased in recent years

Mortalidad en fibrosis quística: análisis retrospectivo de cinco años en institución de alta complejidad: Medellín - Colombia / Cystic fibrosis mortality: retrospective analysis of five years in a highly complex institution: Medellín - Colombia

INTRODUCTION: cystic fibrosis (CF) is a chronic, progressive disease with multisystem involvement and high mortality. An early diagnosis and a multidisciplinary approach lead to longer survival and better quality of life. OBJECTIVE: to characterize the patients who died with CF diagnosis in the period between 2011 and 2017 in the Hospital Universitario San Vicente in Colombia. METHODOLOGY: descriptive study of case series, with retrospective data collection. Results: 168 patients with CF were found in follow-up at the institution during the study period, of which 17 died (10,1%). Eleven deaths corresponded to children under 15 years old (64.7%), with equal distribution of gender (women 52.9% and men 47.1%). The median age at diagnosis was 3 years and median death 12 years. The most frequent clinical compromise was sinopulmonary and gastrointestinal. Pulmonary hypertension occurred in 29.4%. All the patients had a severe functional and nutritional compromise and 82.4% were colonized by Pseudomona aeruginosa. None had multidisciplinary management and most had a low socioeconomic level. BiPAP was used as a palliative measure in 6 patients and all died from ventilatory failure. CONCLUSION: CF mortality in our population continues to present at an early age. The diagnosis of the disease is still made late, compared to developed countries. There was a high proportion of bacterial colonization of the airway and the patients presented a severe clinical and functional status before dying.

INTRODUCCIÓN: la fibrosis quística (FQ) es una enfermedad crónica, progresiva, con compromiso multisistémico y de alta mortalidad. Un diagnóstico temprano y un manejo multidisciplinario llevan a una mayor sobrevida y mejor calidad de vida. OBJETIVO: caracterizar los pacientes que fallecieron con diagnóstico de FQ en el periodo comprendido entre 2011 y 2017 en el Hospital Universitario San Vicente Fundación (HUSVF) de Colombia. METODOLOGÍA: estudio descriptivo de series de casos, con recolección de la información de forma retrospectiva. RESULTADOS: Se encontraron 168 pacientes con FQ en seguimiento en la institución durante el periodo del estudio, de los cuales 17 fallecieron (10.1%). Once muertes correspondieron a menores de 15 años (64.7%), hubo una distribución de género equitativa (mujeres 52.9% y hombres 47.1%). La mediana de edad al momento del diagnóstico fue de 3 años y la de muerte 12 años. El compromiso clínico más frecuente fue sinopulmonar y gastrointestinal. La hipertensión pulmonar se presentó en el 29.4%. Todos los pacientes tenían un grave compromiso funcional, nutricional y el 82,4% estaban colonizados por Pseudomonas aeruginosa. Ninguno tuvo manejo multidisciplinario y la mayoría presentaban un bajo nivel socieconómico. En 6 pacientes se utilizó BiPAP como medida paliativa y todos murieron por falla ventilatoria. CONCLUSIÓN: la mortalidad por FQ en nuestra población se sigue presentando a edades tempranas. El diagnóstico de la enfermedad aún se realiza de forma tardía, comparado con países desarrollados. Hubo alta proporción de colonización bacteriana de la vía aérea y los pacientes presentaron un estado clínico y funcional grave antes de morir.

Maternal and perinatal outcomes in pregnant women with cystic fibrosis / Desfechos maternos e perinatais em gestantes portadoras de fibrose cística

Abstract Objectives To assess the perinatal and maternal outcomes of pregnant women with cystic fibrosis (CF) and severe lung impairment. Methods This was a series of cases aiming to review the maternal and fetal outcomes in cases of singleton pregnant women with a diagnosis of CF. We have included all of the cases of singleton pregnancy in patients with CF who were followed-up at the obstetrics department of the Medical School of the Universidade de São Paulo, between 2003 and 2016. The exclusion criteria were the unattainability of the medical records of the patient, and delivery at other institutions. A forced expiratory volume in 1 second < 50% was considered as severe lung impairment. We have also analyzed data regarding maternal hospitalization and respiratory exacerbations (REs). Results Pregnant women with CF and severe lung impairment did not present an association with spontaneous prematurity, fetal growth restriction or fetal demise. All of the cases involved multiple RE episodes requiring antibiotic therapy. The median (range) of events per patient was of 4 (2-4) events. Conclusion Cystic fibrosis patients with severe lung impairment may achieve successful term pregnancies. However, pregnancies of women with CF are frequently complicated by REs, and this population may require hospital admission during the course of the pregnancy. Cystic fibrosis patients should be followed by a specialized team with experience in treating respiratory diseases.

Resumo Objetivo Avaliar os desfechos maternos e perinatais de gestações em mulheres portadoras de fibrose cística (FC) e disfunção pulmonar grave. Métodos Série de casos visando a avaliação dos desfechos maternos e perinatais em gestações únicas de mulheres com diagnóstico de FC. Foram incluídos todos os casos de gestações únicas de pacientes comFC que tiveramacompanhamento no departamento de obstetrícia da Faculdade de Medicina da Universidade de São Paulo, no período de 2003 a 2016. Os critérios de exclusão foramnão disponibilidade do prontuário da paciente e parto em outro serviço. Disfunção pulmonar grave foi definida como presença de volume expiratório forçado em1 segundo < 50%. Foramanalisados tambémos dados referentes a exacerbações respiratórias e internações maternas. Resultados Gestação em mulheres portadoras de FC com disfunção pulmonar grave não se associaramcomprematuridade espontânea, restrição de crescimento fetal ou óbito fetal. Todos os casos apresentarammúltiplos episódios de exacerbações respiratórias necessitando de antibioticoterapia. A mediana de eventos por pacientes (intervalo) foi de 4 (2-4) eventos. Conclusão Mulheres portadoras de FC com disfunção pulmonar grave podem evoluir com gestações de termo bem sucedidas. Entretanto, gestações nestas pacientes são frequentemente complicadas por exacerbações respiratórias, necessitando de internação. Gestantes portadoras de FC devem ser acompanhadas por uma equipe especializada com experiência no manejo de doenças respiratórias.

Burkholderia cepacia, cystic fibrosis and outcomes following lung transplantation: experiences from a single center in Brazil

OBJECTIVES: To evaluate the impact of Burkholderia cepacia complex colonization in cystic fibrosis patients undergoing lung transplantation. METHODS: We prospectively analyzed clinical data and respiratory tract samples (sputum and bronchoalveolar lavage) collected from suppurative lung disease patients between January 2008 and November 2013. We also subtyped different Burkholderia cepacia complex genotypes via DNA sequencing using primers against the recA gene in samples collected between January 2012 and November 2013. RESULTS: From 2008 to 2013, 34 lung transplants were performed on cystic fibrosis patients at our center. Burkholderia cepacia complex was detected in 13 of the 34 (38.2%) patients. Seven of the 13 (53%) strains were subjected to genotype analysis, from which three strains of B. metallica and four strains of B. cenocepacia were identified. The mortality rate was 1/13 (7.6%), and this death was not related to B. cepacia infection. CONCLUSION: The results of our study suggest that colonization by B. cepacia complex and even B. cenocepacia in patients with cystic fibrosis should not be considered an absolute contraindication to lung transplantation in Brazilian centers.

Clinical significance, antimicrobial susceptibility and molecular identification of Nocardia species isolated from children with cystic fibrosis

ABSTRACT Nocardia is an opportunistic pathogen that causes respiratory infections in immunocompromised patients. The aim of this study was to analyze the epidemiology, clinical significance and antimicrobial susceptibility of Nocardia species isolated from eight children with cystic fibrosis. The isolated species were identified as Nocardia farcinica, Nocardia transvalensis, Nocardia pneumoniae, Nocardia veterana and Nocardia wallacei. N. farcinica was isolated in three patients and all of them presented lung affectation with a chronic colonization and pneumonia. N. farcinica showed resistance against gentamicin, tobramycin, cefotaxime, but was susceptible to trimethoprim-sulfamethoxazole and amikacin. N. transvalensis, which was isolated from two patients, showed an association with chronic colonization. N. transvalensis was resistant to tobramycin and amikacin, but susceptible to ciprofloxacin, trimethoprim-sulfamethoxazole and cefotaxime. N. veterana, N. pneumoniae and N. wallacei were isolated from three different patients and appeared in transitory lung colonization. N. veterana and N. pneumoniae were susceptible to imipenem, trimethoprim-sulfamethoxazole, amikacin, tobramycin, and cefotaxime. N. wallacei was resistant to amikacin, tobramycin, imipenem, and trimethoprim-sulfamethoxazole and susceptible to ciprofloxacin and cefotaxime. All the isolates were identified up to species level by 16S rRNA gene sequencing. The presence of Nocardia in the sputum of patients with cystic fibrosis is not always an indication of an active infection; therefore, the need for a treatment should be evaluated on an individual basis. The detection of multidrug-resistant species needs molecular identification and susceptibility testing, and should be performed for all Nocardia infections.

Caracterización de pacientes fibroquísticos fallecidos en el curso de su enfermedad / Characterization of cystic fibrosis patients who died in the course of disease

INTRODUCCIÓN: la fibrosis quística es una de las más letales enfermedades genéticas, con una sobrevida superior a los 30 años. OBJETIVO: describir las complicaciones y causa de muerte en pacientes fibroquísticos, y la relación de la mortalidad con factores relacionados con el inicio de la enfermedad y variables clínicas. MÉTODOS: se estudiaron descriptiva, longitudinal y retrospectivamente todos los pacientes fallecidos en el periodo de 1993 hasta diciembre de 2013, atendidos en consulta de seguimiento en el Pediátrico Centro Habana, de acuerdo con variables como: el sexo, la edad al inicio y fallecimiento, la clasificación, el estado nutricional, la colonización con Pseudomona aeruginosa, las complicaciones y los resultados necrópsicos, obtenidos todos de sus registros clínicos. RESULTADOS: fallecieron 15 pacientes, con edad promedio de 9,4 años, lo que representa el 18 % de los pacientes atendidos en el periodo analizado, con predominio de los varones (10-66,67 %) y el grupo de edad entre 5 y 9 años (33,3 %), aunque de los 5 lactantes diagnosticados, fallecieron 4 antes de cumplir el primer año. El 60 % comenzó con enfermedad respiratoria típica e insuficiencia pancreática, con desnutrición asociada en el 80 %. Al fallecer todos estaban desnutridos. La mayoría de los fallecidos se colonizaron tempranamente por Pseudomona luego de 1 año del diagnóstico (67 %). La bronconeumonía asociada a la insuficiencia respiratoria aguda fue la principal causa de muerte (66 %), y la sepsis pulmonar severa el resultado necrópsico más frecuente (60 %). CONCLUSIONES: la desnutrición como causa asociada y la afectación respiratoria crónica agudizada estuvieron presentes en la mayoría de los fallecidos, con mayor mortalidad en los diagnósticos muy tempranos.

INTRODUCTION: cystic fibrosis is one of the most deadly genetic diseases with survival rates over 30 years. OBJECTIVES: to describe the complications and causes of death in cystic fibrosis patients and the association of mortality with factors at the onset of disease and with clinical variables. METHODS: retrospective, longitudinal and descriptive study of all dead patients in the period of 1993 through December 2013, who had been treated at the follow-up service of pediatric hospital of Centro Habana, according to the following variables: sex, age of onset of disease and death, classification, nutritional status, Pseudomona aeruginosa colonization, complications and necropsy results, all of them obtained from the clinical records. RESULTS: fifteen patients aged 9.4 years as average died, which accounted for 18 % of patients seen in the analyzed period. Males (10/66,67 %) and the 5 to 9 y age group (33.3 %) predominated, although 4 out of 5 nurslings diagnosed with the disease, died before their first birthday. The first manifestation in 60 % was typical respiratory disease and pancreatic failure, plus associated malnutrition in 80 %. At the time of death, all were undernourished. Pseudomona aeruginosa had colonized most of the dead children after one year of diagnosis (67 %). Acute respiratory failure-related bronchial pneumonia was the main cause of death (66 %) and severe pulmonary sepsis was the most common necropsy result (60 %). CONCLUSIONS: malnutrition as associated cause and acute chronic respiratory failure were present in most of the dead cases, being the mortality rates higher in very early diagnosed cases.

Fibrosis quística: aumento de la sobrevida en un centro especializado a 10 años de seguimiento / Improving cystic fibrosis survival as a result of management in a specialized center with 10-year follow-up

Introducción: La Fibrosis Quística (FQ), la enfermedad genética más frecuente de la raza blanca, es una patología multisistémica y como tal requiere un abordaje multidisciplinario coordinado para obtener mejores resultados de sobrevida y calidad de vida. Con este propósito se organizó un Centro de Fibrosis Quística (CDFQ) en Mendoza, Argentina, y se diseñó este estudio con el objetivo de evaluar la hipótesis de que la organización y tratamiento de la FQ de acuerdo con normas internacionales, mejora la sobrevida. Pacientes y método: Se evaluaron 106 pacientes con FQ a partir del año 1975 en el CDFQ. Los pacientes se agruparon para su seguimiento como cohortes de los años 1999, 2002, 2005 y 2008. Para comparar tasas de sobrevida se usó el test de x² y para edad mediana de la población se usó el test no paramétrico de Mann-Whitney. Resultados: En el año 2008 la sobrevida a los 17 años fue de 80 por ciento comparado con el año 1999 donde esta cifra alcanzó 45 por ciento a la misma edad (p < 0,001). La mediana de edad de la población con FQ total aumentó de 4 años (1985) a 12 años (2008) (p < 0,003). Conclusiones: Un enfoque multidisciplinario y normatizado en un CDFQ puede aumentar la sobrevida significativamente.

Introduction: Cystic fibrosis (CF), the most common genetic disease among whites, is a multisystem disease that requires a coordinated multidisciplinary approach to get better results regarding survival and quality of life. This is why a Cystic Fibrosis Center (CFC) was held in Mendoza, Argentina, with the assumption that the organization and management of CF, according to international standards would improve survival. Patients and Method: 106 patients with CF have been evaluated since 1975 in this Center. Patients were grouped for follow-up monitoring as the 1999, 2002, 2005 and 2008 cohort studies. The chi-square test was used to compare survival rates and the nonparametric Mann-Whitney test was used to calculate the median age of the population. Results: In 2008, survival at 17 years old was 80 percent compared with 45 percent for the same age in 1999 (p < 0,001). The median age of the total CF population increased from 4 (1985) to 12 years old (2008) (p < 0,003). Conclusions: A multidisciplinary standardized approach of this condition in a CF Center can significantly increase survival.

Fibrose cística e terminalidade / Cystic fibrosis and end-stage disease

A Fibrose Cística (FC) é uma doença sistêmica e progressiva, que apesar do tratamento, ainda leva os pacientes à morte.Esta realidade expressa a necessidade de uma abordagem diferenciada diante de um quadro de terminalidade, impondo que o cuidado dispensado possa garantir a autonomia e capacidade de tomar decisões, requerendo dos cuidadores a defesa de seus direitos e uma assistência adequada. Muitas são as demandas de cuidado nesta fase do paciente com FC e sua família, envolvendo aspectos psicobiológicos, psicossociais e psicoespirituais. Este relato procura descrever como os enfermeiros percebem a necessidade de cuidado e realizam intervenções específicas, com o objetivo de atingir os melhores resultados para o paciente e sua família, no domínio funcional, fisiológico e psicossocial. Destaca-se a aceitação do estado de saúde, melhora no enfrentamento, término da vida com dignidade, bem estar do cuidador e o apoio da família durante o tratamento, como alguns resultados de enfermagem abordados. Na fase da terminalidade a equipe interdisciplinar precisa trabalhar de forma coesa, trocando informações, discutindo casos e compartilhando responsabilidades. A enfermagem percebe que o cuidado integral é imprescindível, para possibilitar uma morte digna ao paciente e uma adequada atenção à sua família.

Cystic Fibrosis (CF) is a systemic and progressive disease which, despite its treatment still leads patients towards an earlydeath. This reality expresses the need for a different approach before the patient is in a terminal stage, focusing in patientcare issues that can guarantee them autonomy and ability to make decisions, requiring the caregivers to provide for protection of their rights and appropriate assistance. There are many demands of care in this phase for the CF patients and theirfamilies, involving psychobiological, psychosocial and psychospiritual aspects. This report seeks to describe how nursesperceive the need to conduct careful and specific interventions, aiming at the achievement of the best outcome for the patients and their families in the functional, physiological and psychosocial areas. It is highlighted the acceptance of the patientshealth status, improvement in the day-to-day confrontation of the disease, provide an end of life with dignity, wellnessof the caregiver and family support during the treatment, as some of the nursing outcomes approached in this report. In theterminal phase, the interdisciplinary staff needs to work together, exchanging information, discussing cases and sharingresponsibilities. The nursing perceives that full care is indispensable to enable a dignified death to patients and a properattention to their families.

Fibrose cística: análise da coorte de 10 anos de um programa para adultos / Cystic fibrosis: ten-year analysis of a cohort of an adult program

Introdução: A fibrose cística (FC) que já foi considerada doença da criança, é agora doença do adulto e requer programa para adultos. Objetivo: Definir características clínicas de uma coorte de 10 anos de um programa para adultos com FC e determinar as características associadas com desfechos clínicos. Métodos: Coorte retrospectiva de pacientes com FC (idade & 16 anos) atendida pelo Programa para Adultos do Hospital de Clínicas de Porto Alegre, de outubro de 1998 a outubro de 2008. Foram coletados dados demográficos, dados clínicos, status nutricional, função pulmonar, testes laboratoriais e microbiologia do escarro. Foram definidos como desfechos clínicos: sobrevivência, sobrevivência com transplante pulmonar e óbito. Resultados: Foram atendidos 94 pacientes pelo programa para adultos. A média de idade foi 24,0 ± 7,4 anos e a média do volume expiratório forçado no primeiro segundo (VEF1) foi 56,4 ± 28,8%. Setenta e sete pacientes foram sobreviventes, 6 sobreviventes com transplante pulmonar e 11 morreram. Na análise univariada, etnia caucasiana (P =0,016), mutação F508del (P =0,04), escore clínico (P <0,001), índice de massa corporal (P <0,001), oxigenoterapia (P <0,001), capacidade vital forçada (P =0,023) e VEF1 (P <0,001) se associaram com os desfechos clínicos. A análise de regressão logística identificou fatores associados com desfecho precário: VEF1 (RC =0,72, IC 95% =0,54-0,94, P =0,017) e escore clínico (RC =0,70, IC =0,50-0,97, P =0,034). Insuficiência respiratória crônica exacerbada por infecção respiratória aguda foi causa imediata de morte na maioria dos casos. Conclusão: Este estudo descreveu uma coorte de 94 pacientes com FC atendidos por um programa de adultos. VEF1 e escore clinico se associaram com os desfechos clínicos.

Background: Once considered a childhood disease, cystic fibrosis (CF) is now also a disease of adults and requires adult CF care. Aim: To define the clinical characteristics of a ten-year cohort of an adult CF program and to determine the characteristics associated with clinical outcomes. Methods: The study comprised a retrospective cohort study of CF patients (age &16 years) attending to the adult program of Hospital de Clínicas de Porto Alegre (HCPA), during October 1998 and October 2008. Data collected included patient demographics, clinical data, nutritional status, pulmonary function, laboratory tests and sputum microbiology. Clinical outcomes were defined as survival, survival with lung transplantation and death. Results: Ninety-four patients attended to the adult CF program. The mean age was 24.0 ± 7.4 years and the mean forced expiratory volume in the first second (FEV1) was 56.4 ± 28.8%. Seventy-seven patients were survivors, 6 were survivors with lung transplantation and 11 died. In the univariate analysis, caucasian ethnicity (P = 0.016), F508del mutation (P = 0.04), clinical score (P <0.001), body mass index (P <0.001), oxygen therapy (P <0.001), forced vital capacity (P =0.023) and FEV1 (P <0.001) were associated with clinical outcomes. Logistic regression analysis identified two factors associated with poor outcome: FEV1 (OR =0.72, CI 95% =0.54-0.94, P =0.017) and clinical score (OR =0.70, CI =0.50-0.97, P =0.034). Chronic respiratory failure exacerbated by respiratory infection was the immediate reason of death in the majority of cases. Conclusion: This study described a ten-year cohort of 94 CF patients attending to an adult program. FEV1 and clinical score were associated with clinical outcomes.

Mortalidad por fibrosis quística en Chile (1997-2003) / Cystic fibrosis mortality in Chile between 1997 and 2003

Cystic fibrosis (CF) is the most common lethal autosomic recessive disease among Caucasians. In Chile, its incidence is estimated in 1/4,000 newborns and it is possibly underestimated. Aim: To analyze CF mortality in Chile during the period 1997-2003. Material and methods: Demographic and CF mortality data reported by the National Institute of Statistics during the period 1997-2003 were recorded, according to sex and age. Overall mortality rate for each year was estimated, as well as the average mortality rate during the same period in patients younger than 1 year, 1-4 years, 5-9 years, 10-14 years and older than 15 years. Results: One hundred and three deaths (56 females) due to CF occurred during 1997-2003. Sixty-eight deaths corresponded to patients younger than 15years (66.0 percent). Overall mortality rate ranged from 0.82 to 1.33 per 10(6) inhabitants in 1997 and 1999, respectively. Average mortality rate ranged from 0.46 to 9.81 per inhabitants among patients older than 15 years and younger than 1 year, respectively. Conclusions: Most CF deaths occurred in the pediatric age group.

La transición del niño con fibrosis quística a la adultez / Transition from pediatric to adult cystic fibrosis

El incremento de la sobrevida de los pacientes con fibrosis quística (FQ) ha traído consigo la aparición de nuevas complicaciones respiratorias. Aunque los sujetos con FQ exhiben cambios pulmonares inflamatorios desde el nacimiento, diversos patógenos como Staphyloccocus aureus, Haemophilusinfluenzae y Pseudomona aeruginosa participan de la progresión hacia el daño pulmonar. Las manifestaciones clínicas varían según la edad, si bien existen formas leves también hay casos gravesque alcanzan tempranamente la insuficiencia respiratoria y el estado terminal. El éxito del manejo clínico dependerá de la oportuna intervención con antibióticos apropiados, el empleo de suplementos enzimáticos y una constante kinesioterapia respiratoria. Se brinda una aproximación de cómo enfrentar la transición de estos pacientes desde el control pediátrico hacia el seguimiento por el médico deadultos. Debe reconocerse la progresión de la enfermedad como un evento continuo, brindando un soporte psicológico y cubriendo las necesidades del paciente y su entorno.

Microbiological data of cystic fibrosis patients in a tertiary care center in Saudi Arabia

To determine the microbiological patterns of cystic fibrosis patients in a tertiary care center in Saudi Arabia and their relation to mortality. Material and Aretrospective review of records of all confirmed Cystic Fibrosis [CF] patients followed up during the period November 1992 - November 1998. Of 96 CF patients, 81 [84%] patients are alive, whereas 15 [16%] have died. Fifty patients [52%] were male and 46 [48%], female. The most common bacteria that were grown from the first culture samples were: Pseudomonas aeruginosa in 42 [44%] patients, Hemophilus influenzae in 16 [17%], Staphylococcus aureus in 15 [15%], Streptococcus pneumoniae in 6 [6%], methicillin resistant Staphylococcus aureus [MRSA] in 4 [4%], and Branhamella catarrhalis in 6 [6%]. Follow up culture after 1-6 months of treatment showed an increase of Branhamella catarrhalis culture to 13 [13%] [p=0.03], and MRSA to 6 [6%] [p = 0.02]. Patients in whom Pseudomonas aeruginosa developed resistance to gentamicin, had the shortest lifespan [2 +/- 3 years] after initial diagnosis. The most important factor that was significantly related to early mortality in CF patients was the early development of antibiotic resistance [p value < 0.01]. Early development of Pseudomonasaeruginosa colonization and of other multi-resistant organisms, contributes significantly to early mortality. Cohort isolation should be encouraged in CF centers. Early treatment of chronic Pseudomonas aeruginosa colonization should be adopted to improve survival

Morbidity and mortality data of cystic fibrosis patients

To identify factors that contributed to morbidity and mortality of cystic fibrosis [CF] population in the Kingdom of Saudi Arabia [KSA]. This retrospective chart review was carried out in King Faisal Specialist Hospital and Research Centre, Riyadh, KSA, during a 9 year period, November 1993 to November 2002, on confirmed CF patients, for demographic, clinical and mortality data. A total of 190 CF patients were diagnosed during the 9 years. One hundred and sixty-four [86%] patients are alive, 26 [14%] died. Ninety-nine [52%] were males and 91 [48%] were females. Age at diagnosis 2.8 +/- 3.5 years, and period of follow up 3 +/- 3 years. In 80% of patients, symptoms started <1 year of age. Sixty-five% of patients were in the mild to moderate malnutrition stage [<90th percentile], and 63% are in the mild to moderate stunted growth [<90th percentile]. Factors that contributed to early mortality are: calculated weight/height [p-value 0.01], low albumin level at follow up [0.001], high hematocrit [HCT] [p-values=0.0002], low mean corpuscular volume [MCV] [p-0.0002], low mean corpuscular hemoglobin concentration [MCHC] [p-value 0.001], early development of antibiotic resistance [p-value=< 0.01]. High HCT, low MCV, low MCHC and low albumin are factors related to poor prognosis and early death in CF patients. Iron supplement should be given to these patients even in the presence of normal hemoglobin. Early nutritional rehabilitation is needed to improve survival of our CF patients. Cohort isolation should be encouraged in CF centres. Early treatment of chronic pseudo colonization should be adopted to improve survival

Effect of meconium ileus on the clinical prognosis of patients with cystic fibrosis

The objective of the present study was to determine the possible prognostic factors which may explain the difference in the survival of patients with cystic fibrosis (CF) with and without meconium ileus. Over a period of 20 years, 127 patients with CF, whose diagnosis was confirmed by typical clinical characteristics and altered sweat chloride levels, were studied retrospectively. The patients were divided into two groups: group 1 consisted of patients who presented CF and meconium ileus (N = 9), and group 2 consisted of patients with CF without meconium ileus (N = 118). The characteristics studied were based on data obtained upon admission of the patients using a specific protocol. Demographic, clinical, nutritional and laboratory data were obtained. The genotype was determined in 106 patients by PCR. Survival was analyzed using the Kaplan-Meier method. The median follow-up period was 44 months. A statistically significant difference was observed between the groups studied regarding the following variables: age at diagnosis and weight and height z scores. The presence of meconium ileus was associated with an earlier diagnosis; these patients had greater deficits in height and weight at the time of diagnosis and at the end of the study. The estimated probability of survival for patients with CF without meconium ileus was 62 ± 14 percent and for those with meconium ileus 32 ± 18 percent. Patients with CF and meconium ileus presented a poor nutritional status at diagnosis and a lower survival rate compared to the general CF population

Quadro clínico e nutricional de pacientes com fibrose cística: 20 anos de seguimento no HC-UFMG / Clinical and nutritional aspects of a Center of Cystic Fibrosis-HC-UFMG: 20 years of follow-up

OBJETIVOS: A fibrose cística (FC) é a doença genética letal, de herança autossômica recessiva, mais comum entre pacientes de cor branca. O presente estudo foi realizado com o objetivo de identificar o quadro clínico e nutricional à admissäo dos pacientes no Centro de Tratamento de FC do HC-UFMG e avaliar a sobrevida a longo prazo. PACIENTES E MÉTODOS: Em um período de 20 anos, 127 pacientes portadores de FC foram acompanhados longitudinalmente e submetidos a protocolo previamente estabelecido, após confirmaçäo do diagnóstico pelo teste do suo...

Fibrosis quística

La fibrosis quística es una enfermedad que se hereda de forma autosómica recesiva; se caracteriza por anormalidad en el trasporte de electrolitos por parte de las células epiteliales a nivel sistémico y en especial en glándulas exocrinas. Para su diagnóstico se requiere la sospecha clínica, antecedente familiar, iontoforesis con valores mayores 60mq/L. El tratamiento integral busca mejorar la calidad de vida de estos pacientes. A continuación se presenta un caso atendido en el Servicio de Neumología del Hospital de La Misericordia.