Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement Henoch Schönlein purpura vaskülitinde nöraminidaz-1 geni ile böbrek tutulumunun ilişkisi

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Yılmaz N. B., Ertan P., YÜKSEL S., Neşe N., Horasan G. D., Berdeli A. H.

Pamukkale Medical Journal, vol.15, no.3, pp.539-546, 2022 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.31362/patd.1021975
  • Journal Name: Pamukkale Medical Journal
  • Journal Indexes: Scopus, Central & Eastern European Academic Source (CEEAS), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.539-546
  • Keywords: HSP vasculitis, Immunoglobulin A1 (IgA1), Nephritis, NEU1 gen, nonthrombocytopenic purpura
  • Çanakkale Onsekiz Mart University Affiliated: No


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.