Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome

ARC (Arthrogryposis, renal dysfunction and cholestasis) 증후군 2례

  • Hong, Ja-Hyeon (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Lee, Chang-Han (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Chung, Ki-Sup (Department of Pediatrics, Yonsei University College of Medicine)
  • 홍자현 (연세대학교 의과대학 소아과학교실) ;
  • 이창한 (연세대학교 의과대학 소아과학교실) ;
  • 정기섭 (연세대학교 의과대학 소아과학교실)
  • Received : 2000.03.04
  • Accepted : 2000.03.14
  • Published : 2000.03.30
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Abstract

ARC (arthrogryposis multiplex congenita, renal dysfunction and cholestasis) syndrome was first described by Lutz-Richner and Landolt in 1973 and after then similar cases were scarcely reported worldwide. There's no reported case in Korea. It was first suggested that ARC syndrome was inherited by X-linked recessive trait but now it was thought to be inherited by autosomal recessive trait also. Most parents were consanguineous but some unconsanuineous parents were also reported. We report on 1 male and 1 female infant who had ARC syndrome from 2 unrelated families. They were born from unconsanguineous parents.

저자들은 비근친 부모에게서 출생하여 신생아담즙 정체증, 선천성 다발성 관절 구축증 및 원위형 신세뇨관성 산증 소견을 보인 1례의 남아 및 1례의 여아에서 ARC증후군을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

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