Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor‐related disease

2020 ◽  
Vol 62 (5) ◽  
pp. 629-633 ◽  
Author(s):  
Ayse Ayzit Kilinc ◽  
Gulizar Alishbayli ◽  
Hasan Emir Taner ◽  
Fugen Cullu Cokugras ◽  
Haluk Cokugras
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Transmembrane Conductance ◽  
Related Disease ◽  
Cystic Fibrosis Transmembrane

scholarly journals Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

2013 ◽  
Vol 39 (2) ◽  
pp. 181-189 ◽  
Author(s):  
Vinícius Buaes Dal'Maso ◽  
Lucas Mallmann ◽  
Marina Siebert ◽  
Laura Simon ◽  
Maria Luiza Saraiva-Pereira ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Molecular Analysis ◽  
Clinical Characteristics ◽  
Genetic Diagnosis ◽  
Cftr Gene ◽  
Sweat Test ◽  
Common Mutation ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

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.

scholarly journals Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis

2012 ◽  
Vol 19 (1) ◽  
pp. 46-48 ◽  
Author(s):  
Jodi Goodwin ◽  
Naomi Spitale ◽  
Asma Yaghi ◽  
Myrna Dolovich ◽  
Parameswaran Nair
Keyword(s):  
Cystic Fibrosis ◽  
Therapeutic Option ◽  
Case Series ◽  
Gene Mutations ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Related Disease ◽  
Cystic Fibrosis Transmembrane

The present case series describes four patients with asthma, airway hyper-responsiveness and neutrophilic bronchitis who harboured abnormal cystic fibrosis transmembrance conductance regulator (CFTR) gene mutations. It serves both to alert clinicians to consider CFTR-related disease in both young and elderly patients with persistent neutrophilic bronchitis, and to highlight the potential utility of future genetic testing for CFTR abnormalities in patients with asthma and recurrent bronchitis or pansinusitis, and the role of nebulized hypertonic saline as a therapeutic option in these patients.

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