Emine ZENGİN, Nazan SARPER, Sema AYLAN GELEN

EPOR mutasyonuna bağlı konjenital eritrositozu olan Türk ailenin klinik özellikleri: Çocuk ve ergenlerde düzenli flebotomi gerekli midir?

Bu yazıda başvuru sırasında 9 yaşında erkek ve 15 yaşında kız olan, EPORc.1316G>A (p.Trp439Term) mutasyonu nedeniyle konjenital eritrositoztanısı alan iki kardeş sunulmuştur. Hastalar bulantı, kusma, karın ağrısı ve baş ağrısı yakınmaları ile başvurduklarında hemoglobin değerlerisırasıyla 23 g/dL ve 19,4 g/dL bulunmuştur. Babada, amcada ve muhtemelen hala ve babaannede de konjenital eritrositoz vardı. Kardeşlergenellikle hastaneye hipervizkozite belirtileri olduğunda başvurmayıtercih ettiler ve aralıklı flebotomiler yapıldı. Antiagregan ve hematinikilaçlara uyumları da iyi değildi. On bir yıllık izlem sürecinde kardeşlerin tromboz-kanama ardsorunları olmazken, 39 yaşında amcada inmegelişti. Anti-agregan tedavinin yanısıra hipervizkozite belirtileri olduğunda flebotomi yapılması çocuklarda ve ergenlerde güvenli olabilirken, erişkinlere tromboz-kanama ardsorunlarını önlemek için düzenliflebotomiler önerilebilir.

Clinical characteristics of a Turkish family withcongenital erythrocytosis due to an EPOR mutation:Is routine phlebotomy indicated in children andadolescents?

Here we present two siblings, a 9-year-old boy and a 15-year-old girl at presentation, with congenital erythrocytosis due to an EPOR c.1316G>A (p.Trp439Term) mutation. The patients had nausea, abdominal pain, and headache when they presented with hemoglobin levels of 23 g/dL and 19.4 g/dL, respectively. Their father, paternal uncle, and probably the paternal aunt and grandmother had congenital erythrocytosis. The siblings generally preferred to visit hospital when hyperviscosity symptoms developed and had intermittent phlebotomies. Their compliance to anti-aggregant and hematinic treatment was not satisfactory. Within the 11-year follow-up period, the siblings had no thrombohemorrhagic complications, whereas their 39-year-old uncle had a stroke. In addition to antiaggregant treatment, phlebotomy during hyperviscosity symptoms may be safe in children and adolescents; routine phlebotomies may be recommended to adults to prevent thrombohemorrhagic complications.

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