Brazilian Journal of Pulmonology

ISSN (on-line): 1806-3756 | ISSN (printed): 1806-3713


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Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductanceregulator gene in patients suspected of having mild or atypical cystic fibrosis

Contribuição da análise molecular do gene regulador da condutância transmembrana nafibrose cística na investigação diagnóstica de pacientes com suspeita de fibrose cística leveou doença atípica

Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon,Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin

J Bras Pneumol.2013;39(2):181-189

Abstract PDF PT PDF EN Portuguese Text

Objective: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). Methods: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. Results: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. Conclusions: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.


Palavras-chave: Fibrose cística/diagnóstico; Fibrose cística/genética; Regulador de condutância transmembrana em fibrose cística.




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