대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

2.5세에 진단된 헌터증후군 1례

A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year

  • 최미란 (인하대병원 소아청소년과) ;
  • 권영희 (성균관대학교 삼성서울병원 소아청소년과) ;
  • 진동규 (성균관대학교 삼성서울병원 소아청소년과) ;
  • 이지은 (인하대병원 소아청소년과)
  • Choi, Miran (Department of Pediatrics, Inha University Graduate school of Medicine, Inha University Hospital) ;
  • Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dongkyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Department of Pediatrics, Inha University Graduate school of Medicine, Inha University Hospital)
  • 발행 : 2014.12.25
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초록

헌터증후군(뮤코다당증 II형)은 글리코사미노글리칸의 분해를 촉매하는 효소인 iduronate-2-sulfatase 결핍에 의해 조직이나 기관의 세포 내 리소좀에 heparin sulfate와 dermatan sulfate 등의 전구물질이 축적되어 퇴행성 병변을 일으키는 유전 질환이다. 현재 효소보충요법을 통해 증상의 호전 및 질병의 진행을 지연시키는 치료가 가능하나, 중추신경계 증상이 발현된 경우 치료가 어려운 한계가 있어, 무엇보다 조기에 의심하고 진단하여 치료를 시작하는 것이 중요하다. 따라서 어린연령에 진단된 환아들의 임상적 특징에 대해 이해하는 것이 필요하며, 이에 저자들은 2.5세의 어린 연령에 진단된 환아를 경험하여 이를 보고하는 바이다.

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

키워드

참고문헌

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