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Article

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.

European journal of human genetics : EJHG - 1 Nov 2024

Guleray Lafci Naz, van Goor Mark, Cetinkaya Semra, van der Wijst Jenny, Acun Melisa, Kurt Colak Fatma, Cetinkaya Arda, Hoenderop Joost

Abstract excerpt

Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with...

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Source

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Identifiers

PMID: 38528055
DOI: 10.1038/s41431-024-01589-9
PMCID: PMC11577068

Genes

TRPV5
GNAS

Variants

Provenance

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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