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Article

Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.

Journal of nephrology - 1 Jan 2000

Staiger Katrin, Staiger Harald, Haas Carina, Thamer Claus, Risler Teut, Machicao Fausto, Häring Hans-Ulrich

Abstract excerpt

We report the case of a 20-year-old male Caucasian patient with diagnosed nephrocalcinosis and a medical history of seizures and recurrent urinary tract infections. Laboratory investigations revealed clinical and biochemical abnormalities characteristic of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). Since FHHNC is caused by mutations in the CLDN16 gene encoding a renal tight junction...

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Identifiers

PMID: 17347984

Genes

CLDN16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.PMID 17347984Read ↗

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