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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 recurrent symmetric arthritis. Her clinical symptoms included bilateral cataract due to recurrent uveitis, camptodactyly, and...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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