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Article

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.

Pediatric nephrology (Berlin, Germany) - 1 May 2010

Akil Ipek, Ozguven Aykan, Canda Ebru, Yilmaz Omer, Nese Nalan, Ozkol Mine, May Sandra, Franke Andre, Cirak Sebahattin

Abstract excerpt

Blau syndrome is a rare, multisystem, autosomal-dominant, and granulomatous disorder caused by susceptibility variants in the NOD2 gene. We describe here a 14-year-old girl with Blau syndrome with incidentally diagnosed renal carcinoma. The index case presented with growth retardation and recurre...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20084402
DOI: 10.1007/s00467-009-1413-5

Genes

NOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20084402-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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