Article
Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule.
The Journal of biological chemistry - 30 Oct 1998
Schultheis P J, Lorenz J N, Meneton P, Nieman M L, Riddle T M, Flagella M, Duffy J J, Doetschman T, Miller M L, Shull G E
Abstract excerpt
Mutations in the gene encoding the thiazide-sensitive Na+-Cl- cotransporter (NCC) of the distal convoluted tubule cause Gitelman's syndrome, an inherited hypokalemic alkalosis with hypomagnesemia and hypocalciuria. These metabolic abnormalities are secondary to the deficit in NaCl reabsorption, but the underlying mechanisms are unclear. To gain a better understanding of the role of NCC in sodium and fluid volume...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.