Çocukluk çağı miks konnektif doku hastalığı: olgu serisi

Mikst konnektif doku hastalığı birden fazla bağ doku hastalığına ait bulgular ile karakterize otoimmün bir hastalıktır. U1 RNP’ye karşı yüksek titre otoantikorlar ile karakterizedir. Hastaların %23’ünün çocukluk çağında bulgu verdiği bildirilmiştir. Bu çalışmada, mikst konnektif doku hastalığı tanısı almış ve en az 2 yıl takip edilmiş olan 5 çocuk hastanın demografik ve klinik bulgularının, hastalık sonuçlarının geriye dönük incelenmesi hedeflenmiştir. 

Juvenile mixed connective tissue disease: case series

Mixed connective tissue disease is an autoimmune disorder characterized by symptoms of more than one connective tissue disease and autoantibodies against U1 ribonucleoprotein (RNP). It is rare in children, however disease begin in childhood in 23% of cases. We aimed to identify the demographic and clinical findings and outcomes of five children with mixed connective tissue disease retrospectively in this study. 

___

  • 1. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease-an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. 1972;52:148-59.
  • 2. Lundberg IE. The prognosis of mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31:535-47.
  • 3. Burdt MA, Hoffman RW, Deutscher SL, Wang GS, Johnson JC, Sharp GC. Long-term outcome in mixed connective tissue disease. Arthritis Rheum. 1999;2:899–909.
  • 4. Gunnarsson R, Molberg O, Gilboe IM, Gran JT, Group PS. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis 2011;70:1047-51.
  • 5. Amigues JM, Cantagrel A, Abbal M, Mazieres B. Comparative study of 4 diagnosis criteria sets for mixed connective tissue disease in patients with anti-RNP antibodies. Autoimmunity Group of the Hospitals of Toulouse. J Rheumatol. 1996;23:2055-62.
  • 6. Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL. Epidemiology of mixed connective tissue disease,1985–2014: a population-based study. Arthritis Care Res (Hoboken). 2016;68:1843–8.
  • 7. Flam ST, Gunnarsson R, Garen T, Norwegian MCTD Study Group, Lie BA, Molberg O. The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology. 2015;54:528-35.
  • 8. Mier RJ, Shishov M, Higgins GC, Rennebohm RM, Wortmann DW, Jerath R et al. Pediatric-onset mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31:483–496.
  • 9. Tsai YY, Yang YH, Yu HH, Wang LC, Lee JH, Chiang BL. Fifteen-year experience of pediatric-onset mixed connective tissue disease. Clin Rheumatol. 2010;29:53-8..
  • 10. Hoffman RW, Cassidy JT, Takeda Y, Smith-Jones EI, Wang GS, Sharp GC. U1-70-kd autoantibody-positive mixed connective tissue disease in children. a longitudinal clinical and serologic analysis. Arthritis Rheum. 1993;36:1599–1602.
  • 11. Van der Net J, Van der Hoeven H, Esseveld F, de Wilde EJ, Kuis W, Helders PJ. Musculoskeletal disorders in juvenile onset mixed connective tissue disease. J Rheumatol. 1995;22:751-7.
  • 12. Kotajima L, Aotsuka S, Sumiya M, Yokohari R, Tojo T, Kasukawa R. Clinical features of patients with juvenile onset mixed connective tissue disease: analysis of data collected in a nationwide collaborative study in Japan. J Rheumatol. 1996;23:1088–94.
  • 13. Oetgen WJ, Boice JA, Lawless OJ. Mixed connective tissue disease in children and adolescents. Pediatrics. 1981;67:333-7.
  • 14. Hetlevik SO, Flatø B, Rygg M, Nordal EB, Brunborg C, Hetland H et al. Long-term outcome in juvenile-onset mixed connective tissue disease: a nationwide Norwegian study. Ann Rheum Dis. 2017;76:159-165.
  • 15. Roberta A. Berard, Ronald M. Laxer. Pediatric mixed connective tissue disease. Curr Rheumatol Rep. 2016;18:28.
  • 16. Tellier S, Bader-Meunier B, Quartier P, Belot A, Deslandre C, Koné-Paut I et al. Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. Joint Bone Spine. 2016;83:369-71.
  • 17. Natalia C. O. Ciang, Nıdia Pereira, David A. Isenberg. Mixed connective tissue disease-enigma variations? Rheumatology. 2017;56:326-33.
Cukurova Medical Journal-Cover
  • ISSN: 2602-3032
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1976
  • Yayıncı: Çukurova Üniversitesi Tıp Fakültesi