Article
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.
BMC nephrology - 31 Jul 2013
Tsuji Shoji, Yamashita Miyoko, Unishi Gen, Takewa Reiko, Kimata Takahisa, Isobe Kiyoshi, Chiga Motoko, Uchida Shinichi, Kaneko Kazunari
Abstract excerpt
BACKGROUND: Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mutation of CUL 3....
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