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Article

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.

Journal of nephrology - 1 Dec 2021

Vall-Palomar Mònica, Burballa Carla, Claverie-Martín Félix, Meseguer Anna, Ariceta Gema

Abstract excerpt

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy caused by mutations in the CLDN16 or CLDN19 genes. Patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life. Patients with CLDN19 mutations may also have ocular abnormalities. Despite clinical variability, factors associated with kidney function impairment,...

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PMID: 33929692
DOI: 10.1007/s40620-021-01054-6

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