Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Rhizomelic Chondrodysplasia Punctata I형 1례

A Case of Rhizomelic Chondrodysplasia Punctata Type I

  • 김달현 (인하대학교 의과대학 소아과학교실) ;
  • 권영세 (인하대학교 의과대학 소아과학교실) ;
  • 전용훈 (인하대학교 의과대학 소아과학교실) ;
  • 홍영진 (인하대학교 의과대학 소아과학교실) ;
  • 손병관 (인하대학교 의과대학 소아과학교실) ;
  • 윤혜란 (서울 의과학연구소)
  • Kim, Dal Hyun (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kwon, Young Se (Department of Pediatrics, College of Medicine, Inha University) ;
  • Jun, Yong Hoon (Department of Pediatrics, College of Medicine, Inha University) ;
  • Hong, Young Jin (Department of Pediatrics, College of Medicine, Inha University) ;
  • Son, Byoung Kwan (Department of Pediatrics, College of Medicine, Inha University) ;
  • Yoon, Hye Ran (Seoul Clinical Laboratory)
  • 투고 : 2002.06.19
  • 심사 : 2002.07.27
  • 발행 : 2002.12.15
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초록

저자들은 신생아 시기에 얼굴의 이형성과 사지 근위부 단축으로 입원한 환아에서 생화학검사, 유전자 검사, 섬유아세포 배양으로 국내 최초로 확진된 RCDP 1형 1례를 보고하는 바이다.

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.

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