Article
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II.
Nephron. Physiology - 1 Jan 2011
Zhang Chong, Wang Zhaohui, Xie Jingyuan, Yan Fuhong, Wang Weiming, Feng Xiaobei, Zhang Wen, Chen Nan
Abstract excerpt
BACKGROUND: It has been reported that mutations in WNK1 and WNK4 cause pseudohypoaldosteronism type II (PHA2), an autosomal dominant renal disease. WNK kinase proteins are expressed in the kidney and regulate ion transport including the thiazide-sensitive sodium chloride cotransporter (NCC). In this report, we screened 4 Chinese PHA2 pedigrees for WNK4 mutations, identified a novel mutation, and studied its...
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