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Journals / Cukurova Medical Journal / 2020 / Cilt: 45 - Sayı: 1

Complement C2 polymorphisms in children with Henoch Schönlein purpura

Henoch Schönlein Purpurası tanılı çocuklarda Kompleman C2 gen polimorfizmleri

Rabia Miray KİSLA EKİNCİ
Sibel BALCİ
Bahriye ATMİS
Aysun KARABAY BAYAZİT
Dilek DOGRUEL
Derya Ufuk ALTİNTAS
Atil BİSGİN
Pages
89–95
Publication Date
2020-03-31
DOI
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⚡ TL;DR(Too Long; Didn't Read)

We found higher serum IgM level and lower leukocyte counts in HSP patients with confirmed C2 polymorphisms than the patients with normal C2 gene.Conclusion: Although C2 gene polymorphisms were not related to clinical manifestations and disease outcome in children with HSP, we speculate that C2 gene polymorphisms may be associated with elevated serum IgM levels in patients with HSP.

📌 3 Key Takeaways

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Objective & Hypothesis:Purpose: The aim of this study was to investigate whether C2 polymorphisms influence the symptoms and disease outcomes in children with Henoch Schönlein purpura (HSP).Materials and Methods: This cross-sectional study included 49 children with HSP, diagnosed and followed for at least 6 months in our department between July 2016 and March 2018.
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Key Findings & Data:Sanger sequencing was performed for detecting C2 gene polymorphisms.
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Conclusion & Impact:We found higher serum IgM level and lower leukocyte counts in HSP patients with confirmed C2 polymorphisms than the patients with normal C2 gene.Conclusion: Although C2 gene polymorphisms were not related to clinical manifestations and disease outcome in children with HSP, we speculate that C2 gene polymorphisms may be associated with elevated serum IgM levels in patients with HSP.
🔬Design:Research Article
📍Scope:2016 Verileri
⚙️Variables:C2 geni · Henoch Schönlein Purpurası · IgA vasküliti

Abstract

Purpose: The aim of this study was to investigate whether C2 polymorphisms influence the symptoms and disease outcomes in children with Henoch Schönlein purpura (HSP).Materials and Methods: This cross-sectional study included 49 children with HSP, diagnosed and followed for at least 6 months in our department between July 2016 and March 2018. Sanger sequencing was performed for detecting C2 gene polymorphisms. Statistical analysis was performed for comparison of clinical and laboratory parameters between patients according to having C2 polymorphisms.Results: Only 6 patients (12.2%) had following C2 gene polymorphisms: rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1). Age at disease onset, gastrointestinal and joint involvement, serum complement levels, renal involvement, requirement of systemic steroids and disease relapse were found similar between the patients with and without C2 gene polymorphism. We found higher serum IgM level and lower leukocyte counts in HSP patients with confirmed C2 polymorphisms than the patients with normal C2 gene.Conclusion: Although C2 gene polymorphisms were not related to clinical manifestations and disease outcome in children with HSP, we speculate that C2 gene polymorphisms may be associated with elevated serum IgM levels in patients with HSP.

Özet

Amaç: Bu çalışmada Henoch Shönlein purpurası (HSP) tanılı çocuklarda C2 gen polimorfizmlerinin semptomlar ve hastalık şiddeti üzerine etkilerinin incelenmesi amaçlanmıştır. Gereç ve Yöntem: Bu kesitsel çalışmaya kliniğimizde Temmuz 2016 ve Mart 2018 tarihleri arasında HSP tanısı almış ve en az 6 ay takip edilmiş olan 49 çocuk hasta dahil edilmiştir. Kompleman C2 gen polimorfizmlerini değerlendirmek amacı ile Sanger sekanslama tekniği kullanılmıştır. Hastalar C2 gen polimorfizm varlığına gruplara ayrılarak klinik ve laboratuvar verileri karşılaştırılmıştır. Bulgular: Çalışmamızda sadece 6 (%12,2) hastada C2 gen polimorfizmleri saptanmıştır. Bunlar; rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1) olarak sıralanabilir. C2 gen polimorfizmleri varlığına göre hasta grupları arasında yaş, gastrointestinal ve eklem tutulumları, serum kompleman düzeyleri, böbrek tutulumu, sistemik steroid gereksinimi ve hastalık relaps oranları benzer bulunmuştur. C2 gen polimorfizmi olan hastalarda, olmayanlara göre istatistiksel anlamlı olarak daha yüksek serum IgM düzeyi ve daha düşük lökosit sayısı saptanmıştır. Sonuç: Konusunda ilk olan çalışmamızda her ne kadar C2 gen polimorfizmlerinin HSP’li hastalarda klinik bulgular ve hastalık seyri üzerine etkisi gösterilememiş olsa da, HSP tanılı hastalarda yüksek serum IgM düzeyi C2 gen polimorfizmi ile ilişkili olabilir.

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Cite This Article

EKİNCİ, R. M. K., BALCİ, S., ATMİS, B., BAYAZİT, A. K., DOGRUEL, D., ALTİNTAS, D. U., BİSGİN, A. (2020). Complement C2 polymorphisms in children with Henoch Schönlein purpura. Cukurova Medical Journal, Cilt: 45 - Sayı: 1, 89–95. https://ajindex.com/articles/56211

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References (14)

  1. Eleftheriou D, Dillon MJ, Brogan PA. Advances in childhood vasculitis. Curr Opin Rheumatol. 2009;21:411-8
  2. Heineke MH, Ballering AV, Jamin A, Ben Mkaddem S, Monteiro RC, Van Egmond M. New insights in the pathogenesis of immunoglobulin A vasculitis (Henoch-Schönlein purpura). Autoimmun Rev. 2017;16:1246-53
  3. Ekinci RMK, Balci S, Melek E, Karabay Bayazit A, Dogruel D, Altintas DU, Yilmaz M. Clinical manifestations and outcomes of 420 children with Henoch Schönlein Purpura from a single referral center from Turkey: a three-year experience. Mod Rheumatol. 2019;doi: 10.1080/ 14397595.2019. 1687074
  4. Goldstein AR, White RH, Akuse R, Chantler C. Longterm follow-up of childhood Henoch-Schönlein nephritis. Lancet. 1992;339:280-2
  5. Chen M, Daha MR, Kallenberg CG. The complement system in systemic autoimmune disease. J Autoimmun. 2010;34:276-86
  6. Smith GC, Davidson JE, Hughes DA, Holme E, Beattie TJ. Complement activation in HenochSchönlein purpura. Pediatr Nephrol. 1997;11:477-80
  7. Lin Q, Min Y, Li Y, Zhu Y, Song X, Xu Q et al. Henoch-Schönlein purpura with hypocomplementemia. Pediatr Nephrol. 2017;27:801- 6
  8. Vignesh P, Rawat A, Sharma M, Singh S. Complement in autoimmune diseases. Clin Chim Acta. 2017;465:123-30
  9. Chen HH, Tsai LJ, Lee KR, Chen YM, Hung WT, Chen DY. Genetic association of complement component 2 polymorphism with systemic lupus erythematosus. Tissue Antigens. 2015;86:122-33
  10. Jönsson G, Sjöholm AG, Truedsson L, Bengtsson AA, Braconier JH, Sturfelt G. Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency. Rheumatology (Oxford). 2007;46:1133-9
  11. Macedo AC, Isaac L. Systemic lupus erythematosus and deficiencies of early components of the complement classical pathway. Front Immunol 2016;7:55
  12. Sullivan KE, Petri MA, Schmeckpeper BJ, McLean RH, Winkelstein JA. Prevalence of a mutation causing C2 deficiency in systemic lupus erythematosus. J Rheumatol 1994;21:1128-33
  13. Mills JA, Michel BA, Bloch DA, Calabrese LH, Hunder GG, Arend WP et al. The American College of Rheumatology 1990 criteria for the classification of Henoch-Schönlein purpura. Arthritis Rheum. 1990;33:1114-21
  14. Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R et al. EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria. Ann Rheum Dis. 2010;69:798-806