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

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Abstract

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 persistent erythematous rash with ichthyosis. Her two sisters and her mother were affected with combinations of these conditions—symmetric polyarthritis, uveitis, and skin involvement—suggesting an autosomal dominant trait. The index case developed a chronic renal insufficiency, and an abdominal computerized tomography scan revealed a 2.5-cm mass in the left kidney. The histopathological examination showed renal clear cell carcinoma, chronic tubulointerstitial nephritis, and giant cell granulomas in both the tumor and non-neoplastic renal tissue. Granulomatous inflammation was observed in the skin biopsy specimen. The patient was diagnosed with Blau syndrome based on her family history, uveitis, granulomatous inflammation proved by skin biopsy, and polyarthritis. Sequencing of the NOD2 gene showed a heterozygous p.R334Q mutation in all affected family members. To the best of our knowledge, this is the first reported case of a patient with Blau syndrome accompanied by chronic renal failure and renal carcinoma.

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Authors and Affiliations

  1. Department of Pediatric Nephrology, Celal Bayar University, Manisa, 45040, Turkey

    Ipek Akil

  2. Department of Pediatric Oncology, Celal Bayar University, Manisa, Turkey

    Aykan Ozguven

  3. Department of Pediatrics, Celal Bayar University, Manisa, Turkey

    Ebru Canda

  4. Department of Pediatric Surgery, Celal Bayar University, Manisa, Turkey

    Omer Yilmaz

  5. Department of Pathology, Celal Bayar University, Manisa, Turkey

    Nalan Nese

  6. Department of Radiology, Celal Bayar University, Manisa, Turkey

    Mine Ozkol

  7. Institute for Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany

    Sandra May & Andre Franke

  8. Institute of Child Health, University College London, London, UK

    Sebahattin Cirak

  9. 6345 sok. No: 50/10 Karsiyaka, Izmir, Turkey

    Ipek Akil

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  1. Ipek Akil
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  2. Aykan Ozguven
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  9. Sebahattin Cirak
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Correspondence to Ipek Akil.

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Akil, I., Ozguven, A., Canda, E. et al. Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. Pediatr Nephrol 25, 977–981 (2010). https://doi.org/10.1007/s00467-009-1413-5

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  • DOI: https://doi.org/10.1007/s00467-009-1413-5

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