Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

1998 ◽  
Vol 70 (4) ◽  
pp. 724-728 ◽  
Author(s):  
Keith Jarvi ◽  
Stewart McCallum ◽  
Julian Zielenski ◽  
Peter Durie ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Reproductive Tract ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

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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