Eduardo F. Tizzano; Manuel Buchwald
The cloning of the defective gene in cystic fibrosis (CFTR) is the most important step to date toward understanding the pathogenesis of the disease and developing novel therapeutic strategies.Although many studies have provided insights into the molecular defects and knowledge of the expression and role of the gene, the basic defect and its pathogenesis are still unclear. We hypothesize that organ damage in cystic fibrosis is the result of a combination of at least three main factors: the genotype (the type of mutation that alters the function of the cystic fibrosis transmembrane regulator [CFTR]), the rate of CFTR-mediated chloride secretion in the epithelium of each organ (inferred from the level of expression of the gene), and the anatomical and physiologic characteristics of the affected organs (the size and contents of the ducts). Confirmation of this hypothesis should allow a better understanding of the pathogenesis of the disease and help prevent organ damage.
Learn more about subscription options.
Register Now for a free account.
Tizzano EF, Buchwald M. CFTR Expression and Organ Damage in Cystic Fibrosis. Ann Intern Med. 1995;123:305–308. doi: 10.7326/0003-4819-123-4-199508150-00009
Download citation file:
Published: Ann Intern Med. 1995;123(4):305-308.
Gastroenterology/Hepatology, Pancreatic Disease, Pulmonary/Critical Care.
Results provided by:
Copyright © 2017 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
Conditions of Use
This PDF is available to Subscribers Only