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Article

Vitamin A responsive night blindness in Dent's disease.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2009

Sethi Sidharth Kumar, Ludwig Michael, Kabra Madhulika, Hari Pankaj, Bagga Arvind

Abstract excerpt

Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report on three boys, of Indian origin, with Dent's disease that presented at an early age (1-4 years), with polyuria, polydipsia, salt craving, recurrent vitamin A-responsive...

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Source

Identifiers

PMID: 19444483
DOI: 10.1007/s00467-009-1198-6

Genes

CLCN5

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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Vitamin A responsive night blindness in Dent's disease.PMID 19444483Read ↗

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Dent's disease.Semantic proximity Read ↗

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Dent disease in Poland: what we have learned so far?Semantic proximity Read ↗

[Dent's disease].Semantic proximity Read ↗

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.Semantic proximity Read ↗

Dent's disease: clinical features and molecular basis.Semantic proximity Read ↗

Phenotypic variability of Dent disease in a large New Zealand kindred.Semantic proximity Read ↗

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.Semantic proximity Read ↗

A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1.Semantic proximity Read ↗

[Clinical features and genetic variants of Dent disease in 10 children].Semantic proximity Read ↗

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