Henoch Schönlein purpura vaskülitinde nöraminidaz-1 geni ile böbrek tutulumunun ilişkisi

Abstract

Amaç: Henoch-Schönlein Purpura (HSP) yaygın bir küçük damar vaskülitidir. Çocukluk çağında trombositopenik olmayan purpuraların en sık nedenidir. Hastalığın etyopatogenezi henüz net olarak aydınlatılmamış olmakla beraber genlerin rolü üzerinde durulmaktadır. Sialidazlar adı verilen birçok gen üzerinde çalışılmakta ve nöraminidaz 1 (NEU1) geninin HSP etyopatogenezinde özellikle önemli olabileceği düşünülmektedir. Bu çalışmanın amacı, NEU1 geninin HSP etyopatogenezindeki rolünü ve böbrek tutulumu ile ilişkisini araştırmaktır.
Gereç ve yöntem: Celal Bayar Üniversitesi Hafsa Sultan Hastanesi Çocuk Nefroloji Kliniği'nde HSP böbrek tutulumu tanısı ile takip edilen 50 hasta çalışmaya dahil edildi. Kontrol grubu olarak, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı polikliniğine herhangi bir kronik hastalığı olmayan hasta grubu ile yaş ve cinsiyet uyumlu 50 olgu kabul edildi. Hasta ve kontrol gruplarının kan örneklerinde NEU1 gen mutasyon analizi yapıldı.
Bulgular: Böbrek tutulumu olan HSP hastalarında ve kontrol grubunda NEU1 genetik mutasyonu saptanmadı.
Sonuç: Çalışmamızda NEU1 geninin HSP nefriti ile ilişkisi bulunmamıştır. NEU1 geninin araştırılan bölgelerinde herhangi bir değişiklik tespit edilmemiştir. Daha geniş hasta sayısıyla çalışılmasına ihtiyaç vardır.

Keywords

• HSP vasküliti
• Nefrit
• NEU1 geni
• Immunglobulin A1 (IgA1)
• trombositopenik olmayan purpura

Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement

Abstract

Objectives: HSP is a common small vessel vasculitis. It is the most common cause of non-thrombocytopenic purpura in childhood. The role of genes in etiopathogenesis of the disease, which has not yet been clearly elucidated, is being emphasized. Many genes called sialidases are being studied and is thought that the NEU1 gene may be particularly important in the etiopathogenesis of HSP. The aim of this study is to investigate the role of the NEU1 gene in the etiopathogenesis of HSP and its relation to renal involvement.
Materials and methods: Fifty patients followed in the Celal Bayar University Hafsa Sultan Hospital Pediatric Nephrology Department, with the diagnosis of HSP renal involvement were included into the study. For the control group, age and gender matched 50 cases were accepted among the outpatients admitted to Pediatric Department without any chronic diseases. NEU1 gene mutation analysis was performed in blood samples of both patient and control groups by using the Sanger DNA sequencing method.
Results: NEU1 genetic mutation was not detected in any HSP patient with renal involvement and control group.
Conclusion: In our study, the NEU 1 gene was not found to be associated with HSP nephritis. No changes were detected in the investigated regions of the NEU1 gene. 

Keywords

• HSP vasculitis
• Nephritis
• NEU1 gen
• Immunoglobulin A1 (IgA1)
• nonthrombocytopenic purpura

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