Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

Abstract

Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score.Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospitals Cystic Fibrosis Clinic from July 1990 to July 2000. Results:One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10 th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. ∆F508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were ∆F508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one ∆F508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between ∆F508 homozygous and heterozygous patients. Conclusions:The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients. ResumoObjetivo: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman.Métodos: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre julho de 1990 e julho de 2000.Resultados: Foram estudados 104 pacientes: sexo masculino -53,8%; raça caucasóide -93,3%; comprometimento pulmonar -89,4%, comprometimento digestivo -59,6%; íleo meconial -5,8%; diabetes melito -4,8%; mediana da idade de início dos sintomas -3 meses; mediana da idade no diagnóstico -2 anos e 4 meses; 69,9 e 56,6% apresentavam peso e estatura abaixo do percentil 10, respectivamente, na época do diagnóstico; dosagem de cloro no suor < 60 mEq/l -10,6%; colonização: S. aureus -80,2%, P. aeruginosa -76,0%, B. cepacia -5,2%; ∆F508 homozigoto -18,75%, ∆F508heterozigoto -62,5%; escore de ...

CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

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Lung resection in cystic fibrosis: A survival analysis

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Update on diagnosis and monitoring of cystic fibrosis-related diabetes mellitus (CFRD)

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