Demet ALAYGUT1, Caner ALPARSLAN1, Elif Perihan ÖNCEL2, Fatma MUTLUBAŞ1, Tunç ÖZDEMİR3, Önder YAVAŞCAN1, Belde KASAP DEMİR4

1Department of Pediatric Nephrology, Tepecik Training and Research Hospital, Izmir, Turkey
2Department of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
3Department of Pediatric Surgery, Tepecik Training and Research Hospital, Izmir, Turkey
4Department of Pediatric Nephrology, Katip Çelebi University Faculty of Medicine, Izmir, Turkey

Keywords: Adenosine deaminase 2 deficiency, adolescent, familial Mediterranean fever, polyarteritis nodosa

Abstract

Polyarteritis nodosa (PAN) is a necrotizing systemic vasculitis involving the wall of small and medium sized arteries. The histological aspect is defined by the presence of fibrinoid necrosis and an infiltrate rich in neutrophil polynuclears in the artery wall and rare granulomas. CECR1 (Cat Eye Syndrome Chromosome Region 1) gene mutation causing adenosine deaminase 2 (ADA2) deficiency is also associated with systemic inflammation, vasculopathy, and frequently PAN. Strokes, neurological involvement, and gastrointestinal involvement have poor prognosis in the cases with ADA2 deficiency particularly in early stage. In this article, we report a 17-year-old male patient diagnosed with PAN who had severe gastrointestinal system involvement that was resistant to intensive and conventional immunosuppressive treatment and showed a fatal course despite the emergency surgical intervention. After the patient was exitus, he was detected to have a heterozygous mutation (V276A) of familial Mediterranean fever (FMF) and also a homozygous ADA2 mutation. The aim of this article is to highlight that ADA2 deficiency may be present in treatment-resistant PAN cases who apply due to severe systemic involvement. In this case, accompanying FMF mutation was also observed.