Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of mixed connective tissue disease presenting initially with Raynaud's phenomenon

레이노드 증후군으로 초기 발현된 복합 교원성 질환 1예

  • Kim, Soo Young (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Choi, Young Seok (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Kim, Young Ok (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Woo, Young Jong (Department of Pediatrics, School of Medicine, Chonnam National University)
  • 김수영 (전남대학교 의과대학 소아과학교실) ;
  • 최영석 (전남대학교 의과대학 소아과학교실) ;
  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 우영종 (전남대학교 의과대학 소아과학교실)
  • Received : 2008.03.04
  • Accepted : 2008.06.20
  • Published : 2008.08.15
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Abstract

Mixed connective tissue disease (MCTD) is characterized by diverse symptoms including rheumatoid arthritis, scleroderma, systemic lupus erythematosus, and dermatomyositis, associated with high titers of antibodies to extractable nuclear antigen (ENA), especially anti-ribonucleoprotein (anti-RNP) antibody. Since the first report of 25 cases with MCTD in adults, there have been only a few cases of MCTD reported in children. Here, we report a rare childhood case of MCTD in a 7-year-old girl presenting initially with Raynaud's phenomenon, swollen hands, and ulceration of the right index finger tip followed by alopecia and arthritis during follow-up.

복합 교원성 질환은 류마티스 관절염, 경피증, 전신성 홍반성 낭창, 다발성 근염의 다양한 임상양상을 나타내면서 혈청학적 검사에서 항 ENA 항체를 갖는 질환이다. 성인에서 1972년 25례의 복합 교원성 질환의 첫 보고 이래 국내에서 성인에서 발생한 복합 교원성 질환에 대한 몇몇 보고가 있었지만, 소아에서는 복합 교원성 질환의 보고가 드물다. 7세 여아가 내원 3개월 전부터 시작된 양 손가락에, 글쓰기 및 한랭노출에 의해 유발되는, 가역적인 색깔변화와 차가움을 주소로 내원하였다. 신체 검사에서 양측 손가락들의 부종 및 오른쪽 집게손가락 끝에 궤양이 관찰되었다. 혈청학적 검사에서 다른 교원성 질환의 증거 없이 높은 역가의 ANA와 항 ENA 항체 중 항 RNP 항체가 고역가로 검출되었다. Raynaud 현상과 궤양에 대해 slow releasing nifedipin을 사용하였으나 호전 보이지 않아 스테로이드를 투약 하였고, 이후 궤양은 치유 되었으며, Raynaud 현상의 빈도도 현저히 감소하였다. 그러나 steroid를 점차 감량하는 동안 탈모 및 관절염 증상이 새로 발현되었으며, 현재 겨울에 악화되는 Raynaud 증상과 관절염으로 추적 관찰 중이다. 이에 본 저자들은 Raynaud 현상으로 발현되고 추적 동안에 탈모와 관절염이 나타난 복합 교원성 질환의 드문 소아 증례를 보고하는 바이다.

Keywords

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