Clinical Rheumatology

, Volume 29, Issue 1, pp 53–58 | Cite as

Fifteen-year experience of pediatric-onset mixed connective tissue disease

  • Yi-Ying Tsai
  • Yao-Hsu Yang
  • Hsin-Hui Yu
  • Li-Chieh Wang
  • Jyh-Hong Lee
  • Bor-Luen Chiang
Original Article
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Abstract

The aim of this study was to investigate the initial clinical manifestations, laboratory data, complications, and outcomes of patients with pediatric-onset mixed connective tissue disease (MCTD) in Taiwan. We reviewed medical charts of patients younger than 18 years with a diagnosis of mixed connective tissue disease based on the criteria of Kasukawa (1) at the pediatric department of National Taiwan University Hospital from 1993 to 2008. A total of 12 patients were included. All of the patients were female. The mean age at disease onset was 10.7 years (range 6.5 to 14 years). The most common symptoms at disease onset were polyarthritis (7/12 patients) and Raynaud's phenomenon (7/12 patients). The clinical symptoms changed with time, and other symptoms encompassing the criteria for MCTD developed sequentially. Inflammatory manifestations (arthritis, fever, and skin rash) improved following treatment, whereas sclerodermatous features (sclerodactyly, esophageal disease, and vasculopathy) persisted and were often unresponsive to therapy. The organ involvement-free rates at 2 years, 5 years, and 10 years were 91.7%, 78.6%, and 52.4%, respectively. In this retrospective study, sclerodermatous changes of internal organs were a poor prognostic factor in our population, and we emphasize that long-term follow-up is necessary, and appropriate treatment should be applied to improve the outcomes.

Keywords

Mixed connective tissue disease Pediatric onset Retrospective study Sclerodermatous changes 
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Notes

Disclosures

None

References

  1. 1.
    Kasukawa RTT, Miyawaki S (1987) Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC (eds) Mixed connective tissue disease and antinuclear antibodies. Elsevier, Amsterdam, pp 41–47Google Scholar
  2. 2.
    Michels H (1997) Course of mixed connective tissue disease in children. Ann Med 29:359–364CrossRefPubMedGoogle Scholar
  3. 3.
    Burdt MA, Hoffman RW, Deutscher SL et al (1999) Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 42:899–909CrossRefPubMedGoogle Scholar
  4. 4.
    Sharp GC, Irvin WS, Tan EM et al (1972) Mixed connective tissue disease—an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 52:148–159CrossRefPubMedGoogle Scholar
  5. 5.
    Hoffman RW, Cassidy JT, Takeda Y et al (1993) U1-70-kd autoantibody-positive mixed connective tissue disease in children. A longitudinal clinical and serologic analysis. Arthritis Rheum 36:1599–1602CrossRefPubMedGoogle Scholar
  6. 6.
    Mier RJ, Shishov M, Higgins GC et al (2005) Pediatric-onset mixed connective tissue disease. Rheum Dis Clin North Am 31:483–496 viiCrossRefPubMedGoogle Scholar
  7. 7.
    Singsen BH, Bernstein BH, Kornreich HK et al (1997) Mixed connective tissue disease in childhood. A clinical and serologic survey. J Pediatr 90:893–900Google Scholar
  8. 8.
    Tiddens HA, van der Net JJ, de Graeff-Meeder ER et al (1993) Juvenile-onset mixed connective tissue disease: longitudinal follow-up. J Pediatr 122:191–197CrossRefPubMedGoogle Scholar
  9. 9.
    van der Net J, van der Hoeven H, Esseveld F et al (1995) Musculoskeletal disorders in juvenile onset mixed connective tissue disease. J Rheumatol 22:751–757PubMedGoogle Scholar
  10. 10.
    Swart JF, Wulffraat NM (2008) Diagnostic workup for mixed connective tissue disease in childhood. Isr Med Assoc J 10:650–652PubMedGoogle Scholar
  11. 11.
    Doria A, Bonavina L, Anselmino M et al (1991) Esophageal involvement in mixed connective tissue disease. J Rheumatol 18:685–690PubMedGoogle Scholar
  12. 12.
    Graf WD, Milstein JM, Sherry DD (1993) Stroke and mixed connective tissue disease. J Child Neurol 8:256–259CrossRefPubMedGoogle Scholar
  13. 13.
    Dungan DD, Jay MS (1992) Stroke in an early adolescent with systemic lupus erythematosus and coexistent antiphospholipid antibodies. Pediatrics 90:96–99PubMedGoogle Scholar
  14. 14.
    Hirasaki S, Koide N, Ogawa H et al (1997) Mixed connective tissue disease associated with idiopathic portal hypertension and chronic thyroiditis. J Gastroenterol 32:808–811CrossRefPubMedGoogle Scholar
  15. 15.
    Tsuneyama K, Harada K, Katayanagi K et al (2002) Overlap of idiopathic portal hypertension and scleroderma: report of two autopsy cases and a review of literature. J Gastroenterol Hepatol 17:217–223CrossRefPubMedGoogle Scholar
  16. 16.
    Savouret JF, Chudwin DS, Wara DW et al (1983) Clinical and laboratory findings in childhood mixed connective tissue disease: presence of antibody to ribonucleoprotein containing the small nuclear ribonucleic acid U1. J Pediatr 102:841–846CrossRefPubMedGoogle Scholar
  17. 17.
    Igarashi A, Nashiro K, Kikuchi K et al (1996) Connective tissue growth factor gene expression in tissue sections from localized scleroderma, keloid, and other fibrotic skin disorders. J Invest Dermatol 106:729–733CrossRefPubMedGoogle Scholar
  18. 18.
    Robalino BD, Moodie DS (1991) Association between primary pulmonary hypertension and portal hypertension: analysis of its pathophysiology and clinical, laboratory and hemodynamic manifestations. J Am Coll Cardiol 17:492–498PubMedCrossRefGoogle Scholar
  19. 19.
    Rai T, Ohira H, Fukaya E et al (2004) A case of merged idiopathic portal hypertension in course of mixed connective tissue disease. Hepatol Res 30:51–55CrossRefPubMedGoogle Scholar
  20. 20.
    Kotajima L, Aotsuka S, Sumiya M et al (1996) Clinical features of patients with juvenile onset mixed connective tissue disease: analysis of data collected in a nationwide collaborative study in Japan. J Rheumatol 23:1088–1094PubMedGoogle Scholar
  21. 21.
    Oetgen WJ, Boice JA, Lawless OJ (1981) Mixed connective tissue disease in children and adolescents. Pediatrics 67:333–337PubMedGoogle Scholar
  22. 22.
    de Rooij DJ, Fiselier T, van de Putte LB et al (1989) Juvenile-onset mixed connective tissue disease: clinical, serological and follow-up data. Scand J Rheumatol 18:157–160CrossRefPubMedGoogle Scholar

Copyright information

© Clinical Rheumatology 2009

Authors and Affiliations

  • Yi-Ying Tsai
    • 1
  • Yao-Hsu Yang
    • 1
  • Hsin-Hui Yu
    • 1
  • Li-Chieh Wang
    • 1
  • Jyh-Hong Lee
    • 1
  • Bor-Luen Chiang
    • 1
  1. 1.Department of PediatricsNational Taiwan University HospitalTaipeiRepublic of China

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