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

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

24개월에 만성 화농성 비루를 주소로 내원하여 진단된 헌터 증후군 1례

A Case of Hunter Syndrome Presented with Chronic Purulent Rhinorrhea in 24-month-old Boy

  • 김이안 (순천향대학교 부천병원 소아청소년과) ;
  • 진장용 (순천향대학교 부천병원 소아청소년과) ;
  • 박재옥 (순천향대학교 부천병원 소아청소년과) ;
  • 홍용희 (순천향대학교 부천병원 소아청소년과)
  • Kim, I An (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Jin, Jang Yong (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Park, Jae Ock (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University Hospital)
  • 발행 : 2015.12.25
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초록

Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate-2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.

키워드

참고문헌

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