Article
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
Clinical nephrology - 1 Feb 2011
Park C W, Lim J H, Youn D-Y, Chung S, Lim M-H, Kim Y K, Chang Y S, Lee J-H
Abstract excerpt
Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype. However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression. The brothers had histories of polyhydramnios, prematurity, polyuria, deafness, and small body size. Laboratory...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.