JOURNAL ARTICLE

Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China

Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Intractable & Rare Diseases Research 2017, 6 (2): 114-118
28580211
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations.

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