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Article

A novel CLCN5 mutation in a Chinese boy with Dent's disease.

World journal of pediatrics : WJP - 1 Aug 2014

Ji Li-Na, Chen Chao-Ying, Wang Jing-Jing, Cao Li

Abstract excerpt

BACKGROUND: Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. METHODS: We report a Chinese boy with Dent's disease,...

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Source

Identifiers

PMID: 25124980
DOI: 10.1007/s12519-014-0504-y

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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