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

Abstract 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 CL...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Chun Wang, Juanjuan Ding, Huihui Yang, Lin Huang, Xiaowen Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2026-03-01
coleção:	Scientific Reports
Assuntos:	CLDN16 gene CLDN19 gene Hereditary nephropathies Familial hypomagnesaemia with hypercalciuria and neprocalcinosis Tubular disorders
Acesso em linha:	https://doi.org/10.1038/s41598-026-45530-0
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!