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Article

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Pediatric nephrology (Berlin, Germany) - 1 Apr 2012

Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantinos

Abstract excerpt

BACKGROUND: Familial hematuria (FH) is associated with at least two pathological entities: thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It is now known that TBMN patients develop proteinuria and changes of focal segmental glomerulosclerosis when biopsied. End-stage kidney disease (ESKD) is observed in 20% of carriers, at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22228437
DOI: 10.1007/s00467-011-2084-6

Genes

NPHS2
CFHR5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.PMID 22228437Read ↗

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