Neslihan EDEER KARACA, Elif AZARSIZ, Necil KÜTÜKÇÜLER, Ezgi BÖLÜK, Nazan TÖKMECİ, Güzide AKSU, Ayça AYKUT

Çocuklarda sık yineleyen enfeksiyonlar, nörolojik bulgular, serum ürik asit düşüklüğü ve lenfopeni: Pürin nükleozid fosforilaz eksikliği, çocukluk çağı acil hastalıklarından biri

Pürin nükleozid fosforilaz eksikliği genellikle klinik olarak tekrarlayanenfeksiyonlar, nörolojik semptomlar ve otoimmün hastalıklarla bulguveren, timosit gelişimi ve periferal T hücre aktivasyon kusuruna yolaçan, ağır kombine immün yetmezliklerden biridir ve çocukluk çağı içinbir immünolojik acildir. Bu olgu serisinde Pürin nükleozid fosforilaz eksikliği olan dört olgu değerlendirildi. Olguların hepsinin başvuru yakınmaları arasında tekrarlayan ateşli enfeksiyonlar ve nöromotor gelişimgeriliği vardı ve laboratuvar bulguları incelendiğinde; hepsinde mutlaklenfosit sayısı ve serum ürik asit düzeyi çok düşük seviyelerde, serumimmunglobulin düzeyleri ise normal ya da hafif düşüktü. Dört hastanınyapılan genetik moleküler incelemesinde Pürin nükleozid fosforilaz geninde üç tane daha önceden tanımlı mutasyon saptandı. Dört hastanınüç tanesi izlemde septik tabloda, bir tanesi de hematopoetik kök hücre nakli sonrası dönemde veno-oklusiv hastalık nedeniyle kaybedildi. Çocuklarda sık yineleyen enfeksiyonlar, nörolojik bulgular, serum ürik asitdüşüklüğü ve lenfopeni saptandığında Pürin nükleozid fosforilaz eksikliği tanısının mutlaka düşünülmesi gerektiğini vurgulamak amacıyla buolgular sunulmuştur.

Recurrent infections, neurologic signs, low serum uricacid levels, and lymphopenia in childhood: Purinenucleoside phosphorylase deficiency, an emergencyfor infants

Purine nucleoside phosphorylase deficiency is one of the severe combined immunodeficiencies, which often clinically manifests with recurrent infections, neurologic symptoms and autoimmune diseases, and leads to thymocyte development and peripheral T cell activation defects. It is an immunologic emergency for childhood. In this case series, four cases with purine nucleoside phosphorylase deficiency were evaluated. Recurrent febrile infections and neuromotor developmental retardation were among the presenting symptoms in all cases. Absolute lymphocyte counts and serum uric acid levels were very low, and serum immunoglobulin levels were normal or slightly lower in all cases. The genetic molecular analysis of four patients revealed three predefined mutations in the purine nucleoside phosphorylase gene. Three of the four patients were lost due to sepsis during follow-up, and one patient was lost due to veno-occlusive disease in the post-hematopoietic stem cell transplantation period. We presented these cases to emphasize that purine nucleoside phosphorylase deficiency should always be considered in patients with frequent recurrent infections, neurologic findings, low serum uric acid levels, and lymphopenia.

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