منابع مشابه
Cystic fibrosis: The ‘bicarbonate before chloride’ hypothesis
The specific effects of some mutations that cause cystic fibrosis suggest that reduced HCO(3)(-) transport is the key to understanding cystic fibrosis pathology. But there is a puzzling discrepancy between measures of CFTR-mediated chloride conductance in expression systems and the sweat chloride values of patients.
متن کاملAltered intestinal chloride transport in cystic fibrosis.
Sodium ion and chloride transport was studied in vitro in small intestinal and colonic tissue from patients with cystic fibrosis (CF) and from non-CF control subjects matched as to age and sex. Normal histological appearance and substantial response to mucosal glucose (5 mM, ileum) or mucosal amiloride (10(-5) M, colon) indicated normal tissue viability in both control and CF tissues. Electrone...
متن کاملSweat chloride concentration in cystic fibrosis patients with cystic fibrosis trans-membrane conductance regulator 11234V mutation.
C fibrosis (CF) is one of the most common inherited diseases in Caucasian people. It is caused by mutations in both the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes a transmembrane glycoprotein.1 One of the main consequences of mutations in the CFTR gene is a dysfunction of ion channels resulting in elevated sweat chloride concentrations, pancreatic insufficiency...
متن کاملChloride channels and cystic fibrosis of the pancreas.
Cystic fibrosis (CF) affects approximately 1 in 2000 people making it one of the commonest fatal, inherited diseases in the Caucasian population. CF is caused by mutations in a cyclic AMP-regulated chloride channel known as CFTR, which is found on the apical plasma membrane of many exocrine epithelial cells. In the CF pancreas, dysfunction of the CFTR reduces the secretory activity of the tubul...
متن کاملProtracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.
The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully exp...
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ژورنال
عنوان ژورنال: Nature
سال: 1986
ISSN: 0028-0836,1476-4687
DOI: 10.1038/322407a0