A role for cftr in human autosomal dominant polycystic kidney disease. Hanaoka, Kazushige, Olivier Devuyst, Erik M. Schwiebert, Patricia D. Wilson, and William B. Guggino. Department of Physiology and Division of Nephrology, The Johns Hopkins University, School of Medicine, Baltimore, Maryland 21205
APStracts 2:0346C, 1995.
Human autosomal dominant polycystic kidney disease (ADPKD) is the most common lethal dominant hereditary disorder characterized by enormous renal enlargement and the development of multiple cysts originating from nephrons. We investigated the pathogenesis of cyst formation in ADPKD by using patch-clamp and immunocytochemical techniques. cAMP -activated Cl- currents are present in primary cultures of ADPKD cells and have characteristics such as a linear I-V relation, insensitivity to 4, 4-diisothiocyanostilbene-2, 2-disulfonic acid (DIDS), sensitivity to glybenclamide and diphenylamine carboxylic acid (DPC) and an anion selectivity sequence of Br- > Cl- > I- > Glutamate-, all of which are identical to CFTR. Using CFTR antibodies raised against the regulatory and first nucleotide binding domains, CFTR was detected in primary cultures of ADPKD cells. Similar results were obtained in vivo in cyst-lining epithelial cells in ADPKD kidneys where staining was seen associated with the apical membrane regions. These data indicate that CFTR Cl- channel exists in apical membranes of ADPKD cells and may play an important role in cyst formation or enlargement.

Received 7 July 1995; accepted in final form 25 September 1995
APS Manuscript Number C408-5.
Article publication pending Am. J. Physiol. (Cell Physiology).
ISSN 1080-4757 Copyright 1995 The American Physiological Society.
Published in APStracts on 31 October 95