Investigation of neuraminidase 1 gene association in Henoch-Schonlein Purpura with renal involvement/Henoch Schonlein purpura vaskulitinde noraminidaz-1 geni ile bobrek tutulumunun iliskisi

Purpose: 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 thou...

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Bibliographic Details
Published in:Pamukkale Medical Journal 2022-07, Vol.15 (3), p.539
Main Authors: Yilmaz, Nezihe Bilge, Ertan, Pelin, Yuksel, Selcuk, Nese, Nalan, Horasan, Gonul Dinc, Berdeli, Afig Huseyinov
Format: Article
Language:English
Subjects:
Analysis
Chronic diseases
DNA sequencing
Ethylenediaminetetraacetic acid
Gene mutations
Genes
Investigations
Kidney diseases
Nucleotide sequencing
Pediatrics
Purpura (Pathology)
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Summary:Purpose: 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 (lgA1), nonthrombocytopenic purpura. Amac: Henoch-Schonlein Purpura (HSP) yaygin bir kucuk damar vaskulitidir. Cocukluk caginda trombositopenik olmayan purpuralarin en sik nedenidir. Hastaligin etyopatogenezi henuz net olarak aydinlatilmamis olmakla beraber genlerin rolu uzerinde durulmaktadir. Sialidazlar adi verilen bircok gen uzerinde calisilmakta ve noraminidaz 1 (NEU1) geninin HSP etyopatogenezinde ozellikle onemli olabilecegi dusunulmektedir. Bu calismanin amaci, NEU1 geninin HSP etyopatogenezindeki rolunu ve bobrek tutulumu ile iliskisini arastirmaktir. Gerec ve yontem: Celal Bayar Universitesi Hafsa Sultan Hastanesi Cocuk Nefroloji Klinigi'nde HSP bobrek tutulumu tanisi ile takip edilen 50 hasta calismaya dahil edildi. Kontrol grubu olarak, Cocuk Sagligi ve Hastaliklari Anabilim Dali poliklinigine herhangi bir kronik hastaligi olmayan hasta grubu ile yas ve cinsiyet uyumlu 50 olgu kabul edildi. Hasta ve kontrol gruplarinin kan orneklerinde NEU1 gen mutasyon analizi yapildi. Bulgular: Bobrek tutulumu olan HSP hastalarinda ve kontrol grubunda NEU1 genetik mutasyonu saptanmadi. Sonuc: Calismamizda NEU1 geninin HSP nefriti
ISSN:1309-9833
DOI:10.31362/patd.1021975