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Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.

Calcified tissue international - 1 Apr 2022

Eltan Mehmet, Yavas Abali Zehra, Turkyilmaz Ayberk, Gokce Ibrahim, Abali Saygın, Alavanda Ceren, Arman Ahmet, Kirkgoz Tarik, Guran Tulay, Hatun Sukru, Bereket Abdullah, Turan Serap

Abstract excerpt

Biallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney disease. Here we report two cases of FHHNC with diverse clinical presentations and hypercalcemia in one as a novel finding. Pt#1 initially presented with urinary tract infection and failure to thrive at 5.5 months of age to another center. Bilateral...

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PMID: 34761296
DOI: 10.1007/s00223-021-00928-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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