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Article

Phenotypic variability of Dent disease in a large New Zealand kindred.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2017

Wong William, Poke Gemma, Stack Maria, Kara Tonya, Prestidge Chanel, Flintoff Kim

Abstract excerpt

BACKGROUND: Dent disease 1 is a rare cause of chronic kidney disease (CKD) in childhood secondary to mutations in the gene encoding the chloride-proton exchanger, CLC-5, which is found mainly in the proximal tubule. Clinical manifestations are variable and there are no known genotype-phenotype correlations. CASE DIAGNOSIS/TREATMENT: The proband was identified as having a mutation in CLCN5. The extended family of...

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Source

Identifiers

PMID: 27699523
DOI: 10.1007/s00467-016-3472-8

Genes

CLCN5
CLC

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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