Epidemiological and clinical study of sickle cell disease at tertiary care centre in Western India

Background: Sickle cell disorders are structural hemoglobinopathies, rendering red blood cells sickle shaped, less deformable and sticky leading to microvascular vaso-occlusion and premature red blood cells destruction which leads to varied clinical manifestations. It leads to lifelong morbidity thus affecting quality of life and contributes to early mortality thereby reducing the key national resources- the healthy workforce. This study was done to evaluate epidemiological and clinical profile of sickle cell disease attending the centre.Methods: This study was cross-sectional, observational study conducted at tertiary care hospital in Gujarat. After taking ethical clearance patients were enrolled as per inclusion and exclusion criteria and epidemiological and clinical profile of sickle cell disease patients was studied.Results: Mean age of sickle cell disease was 22.58 years. It was found in tribal communities of Gujarat like Rathwa, Baria, Tadvi etc. Commonest symptom was musculoskeletal pain (86.84%), followed by jaundice (71.05%), fever, dyspnoea, abdominal pain and chest pain. Most common systemic manifestation was pain crises (60.66%), followed by hemolytic anemia (31.15%), acute chest syndrome (30%), consolidation (11.67%), hepatopathy (10%) and avascular necrosis of hip. (6.56%).Conclusions: Sickle cell disease is seen in younger patients. In Gujarat mainly tribal communities are affected. Major systemic manifestations of sickle cell disease include pain crisis followed by hemolytic crisis, acute chest syndrome, hepatopathy and AVN of hip.

Atención de urgencia al paciente adulto con drepanocitosis del Instituto de Hematología e Inmunología / Emergency management of adult patients with sickle cell disease in Institute of Hematology and Immunology

Introducción: la drepanocitosis es la hemoglobinopatía estructural más importante en el mundo, se caracteriza por anemia hemolítica crónica y episodios repetidos de oclusión vascular. Objetivo: determinar las principales causas de atención del paciente adulto con drepanocitosis en el Servicio de Urgencias del Instituto de Hematología e Inmunología. Métodos: se incluyeron 276 eventos clínicos presentados en 143 pacientes con drepanocitosis que acudieron al Servicio de Urgencias en el período comprendido entre febrero de 2012 y noviembre de 2013. Resultados: la mayoría de los pacientes eran del grupo de 18 a 27 años de edad, donde se presentaron 79 eventos clínicos (28,6 por ciento) y fueron predominantemente del sexo femenino (55,1 por ciento). Según el tipo de drepanocitosis el 76,1 por ciento de los pacientes correspondió a la anemia drepanocítica. La mayor cantidad de eventos clínicos ocurrió durante los meses de mayo y agosto.El principal motivo de consulta fue el dolor en 200 eventos clínicos, 72,2 por ciento de los casos. Los recuentos de leucocitos y reticulocitos estuvieron más elevados en los pacientes que ingresaron. El evento clínico más frecuente fue la crisis vasoclusiva dolorosa representada por 165 eventos (59,6 por ciento). Los eventos clínicos que más frecuentemente ingresaron fueron el síndrome torácico agudo y las enfermedades hepatobiliares, 100 por ciento y 91,7 por ciento respectivamente. La hidratación parenteral y los analgésicos fueron los tratamientos más utilizados, 78,3 por ciento y 76,2 por ciento respectivamente. La principal vía de recepción hospitalaria ocurrió por decisión propia y el tiempo de observación media fue de 6,4 horas aproximadamente. Conclusiones: el tratamiento médico oportuno y las medidas que se apliquen desde la llegada de los pacientes al Servicio de Urgencia permitirán disminuir las complicacionesy el número de admisiones hospitalarias, así como mejorar la calidad de vida y la supervivencia de los enfermos(AU)

Introduction: Sickle cell disease is the most important structural hemoglobinopathy in the world; and is characterized by chronic hemolytic anemia and recurrent episodes of vascular occlusion. Objective: To determine the leading causes of adult patient care service with sickle cell disease in the Emergency Department of the Institute of Hematology and Immunology. Methods: 276 clinical events presented in 143 patients with sickle cell disease that came to Emergency Department b etween February 2012 and November 2013 were included. Results: Most patients were categorized in the group of 18 to 27 years representing 79 clinical events (28.6%) with female predominance (55.1 percent). According to the type of sickle cell disease, 76.1 percent of patients corresponded to sickle cell anemia. Most clinical events occurred during the months of May and August. The main reason for medical assistancewas pain in 200 clinical events representing 72.2 percent of cases. White blood cell counts and reticulocytes were higher in patients admitted. The most common clinical event was the painful vaso-occlusive crises, represented by 165 events (59.6 percent). The most frequent clinical events for admission were acute chest syndrome and hepatobiliary diseases with 100 percent and 91.7 percent, respectively.Intravenous hydrationand painkillers were the most commonly used treatments with 78.3 percent and 76.2 percent, respectively. The main way of hospital reception was on a voluntary basis and the mean observation time was approximately 6.4 hours. Conclusions: Oportune medical management and measures implemented since the arrival of patients to the Emergency Department will allow reducing complications and the number of hospital admissions as well as improving the quality of life of these patients and increasing their survival(AU)

Mortality by sickle cell disease in Brazil

Abstract This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms ‘mortality' and ‘sickle cell disease' and ‘Brazil' for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Maranhão, Bahia, Minas Gerais, Rio de Janeiro and Mato Grosso do Sul. The majority of the deaths occurred in patients with sickle cell anemia, which is the most common genotype and causes the most severe clinical manifestation of the disease. In summary, there are few published studies on mortality related to sickle cell disease in Brazil, and most are from the state of Minas Gerais. This study emphasizes the importance of developing more studies on sickle cell disease mortality, so that it may be possible to profile gene carriers and give health professionals more data to strategize the delivery of more effective assistance to these individuals. Despite the early diagnosis of sickle cell disease by the Neonatal Screening Program and the use of preventive and therapeutic measures (penicillin, immunization and hydroxyurea), mortality by sickle cell disease on the world stage is still significant.

Ventilación no invasiva en sindrome torácico agudo: Una nueva alternativa en pediatría

The acute chest syndrome is a complication of the sickle cell anemia that was define as the onset of chest pain, fever, cough, tachypnea, leukocytosis, and a new infiltrate on chest radiograph. It requires handling with intense hydration, transfusions of packed red blood cells or exchange transfusion, close monitoring, oxygen and ventilatory support either noninvasive or through conventional endotracheal tube. Noninvasive ventilation is a proven treatment option for the management of acute and chronic conditions in children, with fewer side effects than conventional ventilation. Four cases of acute chest syndrome patients who were manage with noninvasive ventilation by facemask on CPAP with pressure support were present. Noninvasive ventilation is an effective ventilation option therapy for the management of acute chest syndrome in children.

Síndrome torácico agudo en niños con drepanocitosis en el Instituto de Hematología e Inmunología / Acute chest syndrome in children with sickle cell disease at the Institute of Hematology and Immunology

Introducción: el síndrome torácico agudo se define como la aparición de nuevas lesiones en la radiografía de tórax de pacientes con drepanocitosis, casi siempre acompañadas de fiebre y manifestaciones respiratorias y es la segunda causa de hospitalización en estos niños. Objetivo: conocer las características clínicas, de laboratorio y el tratamiento utilizado en los episodios de síndrome torácico agudo en niños con drepanocitosis. Métodos: se realizó un estudio ambispectivo, analítico que incluyó 112 episodios de síndrome torácico agudo en 62 pacientes entre 0 y 18 años atendidos en el Servicio de Pediatría del Instituto de Hematología e Inmunología en el período comprendido entre el enero 1 de 2005 y julio 30 de 2012. Resultados: predominaron los pacientes del sexo masculino (58,06 por ciento), y con anemia drepanocítica (67,85 por ciento). El grupo de edad que predominó fue el de 5 - 9 años. El 54,8 por ciento de los niños tuvo un solo episodio y el resto presentó dos o más. La fiebre, el dolor torácico y la tos fueron las principales manifestaciones clínicas al diagnóstico. El 52,0 por ciento de las lesiones radiológicas fueron en la base derecha. Se utilizó terapia transfusional en 83 episodios. Los antibióticos más usados fueron cefotaxima, azitromicina y ceftriaxona. Existió correlación entre el índice de gravedad del episodio y el recuento de leucocitos al ingreso (p = 0.009). No existió mortalidad asociada al síndrome torácico agudo. Conclusiones: el síndrome torácico agudo se presentó en los pacientes estudiados con similares características a lo reportado por otros autores. La correcta educación de pacientes y familiares así como un diagnóstico y tratamiento precoces por un equipo médico especializado, fueron decisivos para que ningún niño falleciera por esta causa

Introduction: acute chest syndrome describes new respiratory symptoms and new pulmonary infiltrate in chest radiograph in patients with sickle cell disease, and is the second most common cause of hospitalization in these children Objectives: to get acquainted with clinical and laboratory features and the treatment used in each episode of acute chest syndrome. Methods: an ambispective and analitic study was conducted involving 112 episodes of acute chest syndrome in 62 patients admitted to the Pediatric Service of the Institute of Hematology and Inmunology from January 1st 2005 through July 30th 2012. Results: the syndrome was more frequent in male children (58,06 percent) between 5 - 9 years old and in sickle cell anemia patients (67,85 percent). Only one episode occurred in 54,8 percent of the children and the rest presented two or more. Fever, chest pain and cough were the main features at diagnosis. X-ray findings showed that the right lung base was involved in 52 percent of the cases. All our patients received antibiotic, mainly cefotaxima, azitromicin and ceftriaxone. In 83 episodes blood therapy was applied. We found statistical correlation between white cell count at diagnosis and the severity of the episode (p = 0.009). No mortality associated to acute chest syndrome occurred. Conclusions: the acute chest syndrome was present in the patients studied with similar characteristics reported by other authors. A correct health education to patientes and family members, together with a precise and early diagnosis and treatment directed by a specialized medical team were significant for the survival of all our patients

Avaliação da capacidade funcional para o exercício de crianças e adolescentes com doença falciforme pelo teste da caminhada de seis minutos / Evaluation of functional capacity for exercise in children and adolescents with sickle cell disease through the six minute walk test

OBJETIVO: avaliar a capacidade funcional pulmonar (CF) para o exercício físico de crianças e adolescentes com doença falciforme (DF) pelo teste da caminhada de seis minutos (TC6'). MÉTODOS: estudo transversal prospectivo avaliando a CF pelo TC6' de 46 pacientes com DF. Foram avaliados: frequência cardíaca (FC), frequência respiratória (FR), saturação de pulso de oxigênio (SpO2), pico de fluxo expiratório (PFE), pressão arterial (PA) sistólica e diastólica, dispneia e cansaço em membros inferiores (escala de Borg modificada) em repouso, ao término e 10 minutos após o TC6' e a distância percorrida. Análise estatística: test t-Student pareado, análise de variância e comparações múltiplas de Bonferroni, significância p < 0,05. RESULTADOS: dos 46 pacientes, a média ± dp da idade foi 9,15 ± 3,06 anos, hemoglobina basal 9,4 ± 1,67 g/dL e distância percorrida 480,89 ± 68,70 m. Diagnóstico da DF: Grupo 1- HbSS (n = 20)/HbSβ0-talassemia (n = 3); e Grupo 2 - HbSC (n = 20)/ HbSβ+-talassemia (n = 3). O Grupo 1 apresentou menor distância percorrida do que o Grupo 2 (459,39 ± 57,19 vs 502,39 ± 73,60m; p = 0,032). Não houve diferença estatística em relação ao PFE. A SpO2 em ar ambiente e a SpO2 com O2 (1 L/min) após o teste foi maior no Grupo 2 (p < 0,001 e p = 0,002, respectivamente). A FR foi maior no Grupo 1 ao final do TC6' (p < 0,001). CONCLUSÃO: esta amostra apresentou CF para o exercício abaixo do predito para a faixa etária na literatura. Os pacientes com HbSS/Sβ0-talassemia apresentaram desempenho inferior na distância percorrida, FR e SpO2 após o TC6', comparativamente aos pacientes com HbSC/Sβ+-talassemia.

OBJECTIVE: to evaluate lung functional capacity (FC) for physical exercise in children and adolescents with sickle cell disease (SCD) through the six-minute walk test (6MWT). METHOD: a cross-sectional prospective study was performed to evaluate the FC of 46 patients with SCD through the 6MWT. The following parameters were assessed: heart rate (HR), respiratory rate (RR), peripheral pulse oxygen saturation (SpO2), peak expiratory flow (PEF), blood pressure (systolic and diastolic), dyspnea, and leg fatigue (modified Borg scale) at rest, in the end of the test, and ten minutes after the 6MWT. The total distance walked was also recorded. For statistical analysis, the parametric variables were analyzed using the paired Student's t-test, analysis of variance (ANOVA), and Bonferroni multiple comparisons, with a significance level set at p < 0.05. RESULTS: the 46 patients were aged age 9.15 ± 3.06 years, presented baseline Hb of 9.49 ± 1.67 g/dL, and walked 480.89 ± 68.70 m. SCD diagnosis was as follows: group 1- HbSS (n = 20)/HbSβ0-thalassemia (n = 3) and group 2 - HbSC (n = 20)/HbSβ+-thalassemia (n = 3). Regarding total distance walked, patients in group 1 walked a shorter distance than patients in group 2 (459.39 ± 57.19 vs. 502.39 ± 73.60 m; p = 0.032). There was no statistical difference regarding PEF in the three moments of evaluation. The SpO2 in ambient air and SpO2 with O2 differed between groups 1 and 2 (p < 0.001 vs. p = 0.002), as well as the RR (p = 0.001). CONCLUSION: these patients showed a lower FC for exercise than that predicted for the age range in the literature. Patients diagnosed with HbSS/Sβ0-thalassemia had a lower performance in the test than those with HbSC/Sβ+-thalassemia regarding total distance walked, RR, and SpO2 after the 6MWT.

La drepanocitosis y el asma bronquial / Sickle cell disease and bronchial asthma

El diagnóstico del asma en niños y adultos con drepanocitosis se ha asociado a un aumento de las crisis de dolor y del síndrome torácico agudo, así como a un mayor riesgo de muerte y una menor expectativa de vida. No está bien definido el mecanismo por el cual el asma influye en la drepanocitosis y su prevalencia en esta entidad es muy variable. Ambas son enfermedades inflamatorias y sus mediadores, así como las alteraciones en la vía del óxido nítrico contribuyen a su fisiopatología. La hipovitaminosis D que ocurre en la drepanocitosis se relaciona con la severidad del asma, con una respuesta disminuida a los esteroides y pudiera contribuir a la elevada morbilidad en estos pacientes. La hiperreactividad de las vías aéreas es frecuente en la drepanocitosis, así como las alteraciones de las pruebas funcionales respiratorias. El patrón obstructivo pulmonar está asociado con un mayor número de hospitalizaciones por síndrome torácico agudo y crisis vasoclusivas dolorosas, y a un mayor riesgo de muerte. Por otra parte, el acetaminofén se asocia a un aumento del riesgo de asma y se utiliza con frecuencia en los episodios dolorosos en la drepanocitosis, por lo tanto debe investigarse si existe alguna relación entre su uso en la drepanocitosis y la prevalencia del asma. El diagnóstico y tratamiento adecuado del asma puede disminuir su impacto en la drepanocitosis

The diagnosis of asthma in children and adults with sickle cell disease has been associated with increased painful crises and acute chest syndrome, as well as an increased risk of death and a lower life expectancy. The mechanism by which asthma affects patients with sickle cell disease is not well defined and its prevalence in this condition is highly variable. Both are inflammatory diseases and their mediators and alterations in the nitric oxide pathway contribute to its pathophysiology. Hypovitaminosis D occurs in sickle cell disease and is related to the severity of asthma with a diminished response to steroids and may contribute to the high morbidity in these patients. The airway hyperresponsiveness and the abnormalities of lung function tests are common in sickle cell disease. The pulmonary obstructive pattern is associated to an increased risk of death and hospitalizations for acute chest syndrome and painful vaso-occlusive crises. On the other hand, acetaminophen is associated to an increased risk of asthma and is frequently used in painful episodes in sickle cell disease; therefore, it should be investigated whether there is any relationship between its use in sickle cell disease and asthma prevalence. An adequate diagnosis and treatment of asthma can reduce its impact on sickle cell disease

Clinical and hematological effects of hydroxyurea therapy in sickle cell patients: a single-center experience in Brazil / Efeitos clinicos e hematologicos do tratamento com hidroxiureia em pacientes falciformes: experiencia de um centro no Brasil

CONTEXT AND OBJECTIVES Sickle cell disease (SCD) is the most common genetic disorder among people of African descent, affecting approximately 3,500 newborns each year in Brazil. Hydroxyurea (HU) is the only effective drug to treating patients with SCD, thereby reducing morbidity and mortality. The objective was to analyze the effects of HU on SCD patients at our institution. DESIGN AND SETTING Retrospective study conducted at a sickle cell centre in Ribeirão Preto, São Paulo, Brazil. METHODS We analyzed clinical and laboratory data on 37 patients. The hematological parameters and clinical events that occurred during the year before and the first year of treatment with HU were analyzed. The mean dose of HU was 24.5 ± 5.5 mg/kg/day. RESULTS There were rises in three parameters: hemoglobin (8.3 g/dl to 9.0 g/dl, P = 0.0003), fetal hemoglobin (HbF) (2.6% to 19.8%, P < 0.0001) and mean cell volume MCV (89 to 105 fl, P = 0.001); and reductions in the numbers of leukocytes (10,050/µl to 5,700/µl, P < 0.0001), neutrophils (6,200/µl to 3,400/µl, P = 0.001), platelets (459,000/µl to 373,000/µl, P = 0.0002), painful crises (1.86 to 0.81, P = 0.0014), acute chest syndromes (0.35 to 0.08, P = 0.0045), infections (1.03 to 0.5, P = 0.047), hospitalizations (1.63 to 0.53, P = 0.0013) and transfusions (1.23 to 0.1, P = 0.0051). CONCLUSION The patients presented clinical and hematological improvements, with an increase in HbF and a reduction in the infection rate, which had not been addressed in most previous studies. .

CONTEXTO E OBJETIVO A doença falciforme (SCD) é o distúrbio genético mais comum entre afrodes-cendentes, afetando aproximadamente 3.500 recém-nascidos a cada ano no Brasil. A hidroxiureia (HU) é a única droga efetiva para o tratamento dos pacientes com SCD, reduzindo a morbidade e a mortalidade da doença. O objetivo do estudo foi analisar os efeitos da HU em pacientes com SCD em nossa instituição. TIPO DE ESTUDO E LOCAL Estudo retrospectivo realizado em um centro de anemia falciforme em Ribeirão Preto, São Paulo, Brasil. MÉTODOS Nós analisamos os dados clínicos e laboratoriais de 37 pacientes. Os parâmetros hematológicos e eventos clínicos que ocorreram no ano anterior e durante o primeiro ano de tratamento com HU foram analisados. A dose média de HU foi 24.5 ± 5.5 mg/kg/dia. RESULTADOS Houve aumento em três parâmetros estudados: hemoglobina (8,3 g/dl para 9,0 g/dl, P = 0,0003), hemoglobina fetal (HbF) (2,6% para 19,8%, P < 0,0001) e volume corpuscular médio (VCM) (89 para 105 fl, P = 0,001); e redução do número de leucócitos (10.050/µl para 5.700/µl, P < 0,0001), neutrófilos (6.200/µl para 3.400/µl, P = 0,001), plaquetas (459.000/µl para 373.000/µl, P = 0,0002), crises dolorosas (1,86 para 0,81, P = 0,0014), síndrome torácica aguda (0,35 para 0,08, P = 0,0045), infecções (1,03 para 0,5, P = 0,047), hospitalizações (1,63 para 0,53, P = 0,0013) e número de transfusões (1,23 para 0,1, P = 0,0051). CONCLUSÃO Os pacientes apresentaram melhora clínica e hematológica, com aumento da HbF e redução da taxa de infecção, dado este não explorado na maioria dos estudos clínicos já publicados. .

Anemia de células falciformes: Guía de manejo pediátrico / Sickle cell disease: pediatric management guide

La anemia de células falciformes o drepanocítica es una enfermedad común en la edad pediátrica, con alta mortalidad en menores de 5 años de edad. Cuando un niño hereda esta condición de sus padres quienes son portadores, los glóbulos rojos sufren un cambio de forma o “falciformación”, alterando el flujo de sangre y provocando enfermedad, dolor y daño de órganos. Es necesario el despistaje universal a todos los recién nacidos, para identificar los afectados e iniciar tempranamente su cuidado y educación a los padres para prevenir ytratar las complicaciones, permitiéndoles tener una mejor calidad de vida. Se presentan unas guías y opciones terapéuticas para laprevención y el manejo de las complicaciones

Sickle cell disease (SCD) is a common condition in childhood with a high mortality rate, especially under 5 years of age. When children inherit SCD from their carrier parents, the red blood cells form an abnormal sickled shape. As a result, blood does not flow well, causingdisease, pain and organ damage. Universal newborn screening is necessary to identify and treat early those affected babies, thus preventing complications and allowing them to have a healthier life. Here is a set of guidelines and treatment options to prevent and manage sickle cell related complications

Fisioterapia respiratória em crianças com doença falciforme e síndrome torácica aguda / Respiratory therapy in children with sickle cell disease and acute chest syndrome

OBJETIVO:Realizar uma revisão sistemática da literatura médica para identificar as técnicas de fisioterapia respiratória aplicadas em crianças com doença falciforme e síndrome torácica aguda, bem como descrever seu nível de evidência e recomendação. FONTES DE DADOS: Revisão bibliográfica nos bancos de dados Medline, Lilacs, SciELO e Cochrane no período de 1995 e 2009, com os descritores: "doença falciforme", "síndrome torácica aguda", "fisioterapia", "criança", "inspirometria de incentivo", em português e inglês, excluindo-se os estudos de revisão. Os artigos foram classificados por nível de evidência. SÍNTESE DOS DADOS: Foram encontrados cinco artigos; destes, três utilizaram a inspirometria de incentivo e observaram que ela evita as complicações pulmonares associadas à síndrome torácica aguda (nível de evidência II, II e IV), um deles (evidência II) comparou a inspirometria de incentivo com o dispositivo de pressão expiratória, sem diferenças entre ambos. Um artigo utilizou uma rotina de cuidados, incluindo a inspirometria de incentivo (evidência V), e observou redução do tempo de internação hospitalar e do uso de medicação oral para dor. Outro estudo com a ventilação não invasiva para crianças com desconforto respiratório e com incapacidade de realizar a inspirometria de incentivo relatou melhora da oxigenação e do desconforto respiratório (nível de evidência V). CONCLUSÕES: As técnicas de fisioterapia respiratória com dispositivos de inspirometria de incentivo, de pressão expiratória e a ventilação não invasiva podem ser aplicadas em crianças com doença falciforme e síndrome torácica aguda; o nível de recomendação é C.

OBJECTIVE:To systematically review the medical literature to identify chest physiotherapy techniques applied to children with sickle cell disease and acute chest syndrome, and to report their level of evidence and recommendation. DATA SOURCE: A bibliographic search of published articles found in Medline, Lilacs, SciELO and Cochrane databases, between 1995 and 2009, was carried out using the following keywords: "sickle cell disease", "acute chest syndrome", "physical therapy", "child", "incentive spirometry", in English and Portuguese; all review studies were excluded. The recovered studies were then classified according to their level of evidence and recommendation. DATA SYNTHESIS: Five papers were retrieved. Among them, three used incentive spirometry that played an important role in the prevention of pulmonary complications associated with acute chest syndrome (evidence levels II, III and IV); one of these studies (evidence II) compared incentive spirometry versus positive expiratory pressure and did not find differences between them. One paper reported a clinical bundle to improve the quality of care, including incentive spirometry (evidence level V). Incentive spirometry was associated with shorter length of stay and less requirement of oral pain medications. Another study evaluated the effect of non-invasive ventilation on respiratory distress in children that could not perform incentive spirometry and reported improvement in the oxygenation and in the respiratory distress (evidence level V). CONCLUSIONS: Physiotherapy techniques with incentive spirometry device, positive expiratory pressure and non-invasive ventilation can be performed in children with sickle cell disease and acute chest syndrome, with a C recommendation level.

Anemia falciforme e suas manifestações respiratórias / Pulmonary manifestations of sickle cell disease

A doença falciforme é a enfermidade monogênica mais comum no Brasil, sendo uma afecção sistêmica que potencialmente pode afetar vários órgãos e sistemas. O pulmão é um dos órgãos mais acometidos e as complicações na doença falciforme resultam em significante morbimortalidade na faixa pediátrica. Nesse contexto, o presente artigoapresenta as principais manifestações respiratórias da doença falciforme, em virtude da importância do diagnóstico precoce e da abordagem inicial por parte dos pediatras,especialmente da síndrome torácica aguda (STA), da hipertensão arterial pulmonar e da associação com a asma brônquica. O conhecimento por parte dos pediatras da abordagem adequada das manifestações respiratórias citadas no presente artigo de revisão é fundamental para o sucesso do tratamento, sendo também relevante o atendimento inicial adequado e o manejo do procedimento...

The Sickle Cell Disease is the most common inherited genetic disorder in Brazil being asystemic disease that can powerfully affect several organs and systems. The lungs are oneof the most affected and the consequences of the Sickle Cell Disease result in a significant morbid-mortality in pediatric patients and, in this context, the present article presents the main pulmonary manifestations of the stated disease. The article also considers the importance of an early diagnosis and the initial pediatric approach to these manifestations especiallyin: the Acute Chest Syndrome, Pulmonary Hypertension and the association of SickleCell Disease with Asthma. The acknowledgment by the Pediatricians of these respiratory manifestations is fundamental for the success of the treatment, and the initial assessment and adequate management of the procedure are also extremely relevant...

Manejo das complicações agudas da doença falciforme / Management of acute complications of sickle cell disease

Anemia falciforme (HbSS) é uma doença autossômica recessiva caracterizada pela herança homozigotada hemoglobina S (HbS). Clinicamente apresenta-se com anemia hemolítica e vaso-oclusão. O termo doença falciforme engloba a anemia falciforme e heterozigozes compostas com hemoglobina S,como S? talassemia e hemoglobinopatia SC, além de outras associações menos comuns. São várias as complicações agudas na doença falciforme: crises vaso-oclusivas, infecções por microorganismos encapsulados, principalmente do trato respiratório e septicemia, síndrome torácica aguda, sequestro esplênico, priapismo, Acidente Vascular Cerebral (AVC) e crise aplástica. O conhecimento das intercorrências na Doença Falciforme é de extrema importância para todos os níveis de atendimento destes pacientes. A detecção precoce das complicações possibilita tratamento adequado e diminuição da morbimortalidade relacionada a elas.

Sickle cell anemia (SCA) is an autosomal recessive disease characterized by the presence of hemoglobinS. It presents with hemolytic anemia e vaso-occlusives phenomena. The term sickle cell disease (SCD)includes the SCA and a group of compound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal haemoglobin allele, like sickle hemoglobinC disease (HbSC), sickle beta-thalassaemia and other rarer combinations. There are many acute complications of SCD: vaso-occlusives crisis, encapsulated organisms infections, mainly of the airways and sepsis, acute chest syndrome, splenic sequestration, priapism, stroke and aplastic crisis.The knowledge of these complications is very important for all grades of medical assistence. The early detection allows appropriate treatment and reduction of the morbidity and mortality associated with the disease.

Complicações cardiopulmonares das doenças falciformes / Cardiopulmonary complications of sickle cell disease

O pulmão é um dos principais alvos de complicações agudas e crônicas nas doenças falciformes (DF). A síndrome torácica aguda é a segunda causa de internação hospitalar apresentando considerável morbimortalidade. O suporte clínico de alta qualidade é a base do tratamento bem sucedido. A administração adequada de fluidos, a analgesia, a oxigenioterapia, a fisioterapia respiratória ativa e o uso criterioso de transfusões sanguíneas são elementos essenciais do tratamento. A hipertensão pulmonar (HP), por sua vez, tem sido recentemente reconhecida como uma das complicações mais graves e freqüentes destes pacientes. A pressão de artéria pulmonar deve ser medida periodicamente por meio de ecocardiografia. Se o diagnóstico de HP for confirmado, o uso de hidroxiuréia, anticoagulação, transfusões e oxigênio deveriam ser considerados. As manifestações cardíacas nas DF incluem cardiomegalia, isquemia miocárdica, disfunção ventricular e cor pulmonale. O tratamento destas complicações deve seguir as recomendações das diretrizes atuais.

The lung is a major target organ for acute and chronic complications in sickle cell disease. Acute chest syndrome is the second most common cause of hospital admission resulting in considerable morbidity and mortality. The mainstay of successful treatment remains high quality supportive care. Fluid management, analgesia, oxygenation, bronchodilators, incentive spirometry and judicious use of transfusion therapy are essential elements of supportive care management. Pulmonary hypertension (PHT) has emerged as one of the most frequent and serious complications in these patients. The pulmonary artery pressure should be evaluated periodically by echocardiography. If the PHT diagnosis is positive the use of hydroxiurea, anticoagulation, transfusions and oxygen therapy should be considered. Cardiac manifestations are common including enlargement of the heart, myocardial ischaemia, ventricular dysfunction and cor pulmonale. The management of these complications follows the current guidelines.