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Article

A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2016

Lv Fang, Xu Xiao-Jie, Wang Jian-Yi, Liu Yi, Jiang Yan, Wang Ou, Xia Wei-Bo, Xing Xiao-Ping, Li Mei

Abstract excerpt

BACKGROUND: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessively inherited disease characterized by excessive wasting of renal tubular magnesium and calcium. FHHNC is associated with various mutations in CLDN16 and CLDN19. CASES: Two children from a consanguineous family of Chinese Han origin demonstrated manifestations of rickets, polyuria, polydipsia,...

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Identifiers

PMID: 27067446
DOI: 10.1016/j.cca.2016.04.004

Genes

CLDN16
CLDN19
PTH

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