Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196002
Type: Artigo de periódico
Title: [cystic Fibrosis At A Brazilian Center Of Excellence: Clinical And Laboratory Characteristics Of 104 Patients And Their Association With Genotype And Disease Severity].
Author: Alvarez, Alfonso E
Ribeiro, Antonio F
Hessel, Gabriel
Bertuzzo, Carmen S
Ribeiro, José D
Abstract: 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. Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospital's Cystic Fibrosis Clinic from July 1990 to July 2000. 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 10th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76%, and Burkholderia cepacia in 5.2%. DeltaF508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were DeltaF508 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 DeltaF508 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 DeltaF508 homozygous and heterozygous patients. 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.
Subject: Adolescent
Adult
Age Of Onset
Brazil
Child
Child, Preschool
Cross-sectional Studies
Cystic Fibrosis
Female
Genotype
Hospitals, University
Humans
Infant
Infant, Newborn
Male
Mutation
Retrospective Studies
Severity Of Illness Index
Survival Analysis
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/15505732
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_15505732.pdf207.3 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.