The increase in numbers of adults with cystic fibrosis (CF) has allowed us to identify previously unrecognized chronic complications of CF, as well as appreciate unique presentations of cystic fibrosis-related diseases. Do these chronic complications and unique presentations provide us with new insight into cystic fibrosis transmembrane conductance regulator (CFTR) function? Current data sugges...

Cystic fibrosis is a monogenic disorder with significant morbidity and mortality, despite advances in conventional treatment. It is a good candidate for gene therapy and this field has progressed rapidly since the cystic fibrosis transmembrane conductance regulator gene was cloned. We will review the specific questions to address for successful cystic fibrosis gene therapy, such as the extraand...

Congenital absence of the vas occurs in up to 1% of men. Congenital unilateral absence of the vas deferens can be related to cystic fibrosis transmembrane conductance regulator mutations or in 79% of cases, renal agenesis. We present a case of each, diagnosed in children at operation for elective inguinal hernia repairs. One patient had associated ipsilateral renal agenesis with a normal cystic...

Cystic fibrosis (CF) is caused by mutations in the cystic transmembrane conductance regulator (CFTR) gene. It has been postulated that reduced HCO 3 ? transport through CFTR may lead to a decreased airway surface liquid pH. In contrast, others have reported no changes extracellular pH (pHe). We recently carcinoma Caco-2/pRS26 cells (transfected with short hairpin RNA for CFTR) or CF lung epithe...

Purpose of review Over the past four decades, outcomes for patients with cystic fibrosis have improved dramatically. Major contributors to this improvement are a better understanding of disease pathogenesis and the systematic conduct of clinical trials evaluating new therapies designed to address these defects. This review describes recent developments in cystic fibrosis pulmonary therapies int...

BackgroundChronic rhinosinusitis with nasal polyps (CRSwNP) is one of the most common chronic disorders limited therapeutic options. However, pathogenesis CRSwNP remains poorly understood.ObjectiveWe sought to determine role abnormalities in epithelial ion transport primary cultures and patients CRSwNP.MethodsWe studied transcript levels Cl? channels cystic fibrosis transmembrane conductance re...