Ontology highlight
ABSTRACT:
SUBMITTER: He G
PROVIDER: S-EPMC5116868 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
He Guohua G Zhang Hongwen H Cao Shanshan S Xiao Huijie H Yao Yong Y
Intractable & rare diseases research 20161101 4
Dent's disease is an X-linked recessive proximal tubular disorder that mostly affects male patients in childhood or early adult life. The condition is caused by mutations in the <i>CLCN5</i> (Dent disease 1) or <i>OCRL</i> (Dent disease 2) genes located on chromosome Xp11.22 and Xq25, respectively. In most male patients, proteinuria is subnephrotic but may reach nephrotic levels. Here, we report the first case of Dent's disease complicated by nephrotic syndrome. Dent's disease should be consider ...[more]