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Article

From clinical mimicry to accurate diagnosis: COL4A4-associated nephropathy hidden behind polycystic kidney disease.

Nefrologia - 1 Jan 2026

Del Águila García María Del Mar, Poyatos Andújar Antonio M, Morales García Ana I, Velázquez de Castro Del Pino María Del Carmen, Espigares Huete María José, Esteban de la Rosa Rafael J

Abstract excerpt

Type IV collagen related nephropathy caused by heterozygous variants in the COL4A3 or COL4A4 genes shows a wide phenotypic variability, with asymptomatic individuals being relatively common. A cystic phenotype in these cases is uncommon and rarely presents with nephromegaly mimicking autosomal dominant polycystic kidney disease (ADPKD). We report a family with hereditary kidney disease showing an autosomal...

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Share to Collagen Type IV
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nephritis, Hereditary

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Share to Polycystic Kidney, Autosomal Dominant

Source

Identifiers

PMID: 42336693
DOI: 10.1016/j.nefroe.2026.501577

Genes

COL4A4
COL4A3
PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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