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Article

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN16/CLDN19 mutations in four Chinese families.

Scientific reports - 27 Mar 2026

Wang Chun, Ding Juanjuan, Yang Huihui, Huang Lin, Wang Xiaowen

Abstract excerpt

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in the CLDN16 or CLDN19 genes, patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life, and those with CLDN19 gene mutations have ocular findings in addition. Five children from four non-consanguineous Chinese Han families...

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Identifiers

PMID: 41896308
DOI: 10.1038/s41598-026-45530-0
PMCID: PMC13039408

Genes

CLDN16
CLDN19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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