ARC (Arthrogryposis, renal dysfunction and cholestasis) 증후군 2례
Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome
홍자현, 정기섭, 이창한,
소속 상세정보
홍자현 ( Hong Ja-Hyeon )
연세대학교 의과대학 소아과학교실
정기섭 ( Chung Ki-Sup )
연세대학교 의과대학 소아과학교실
이창한 ( Lee Chang-Han )
연세대학교 의과대학 소아과학교실
KMID : 0816120000030010110
Abstract
저자들은 비근친 부모에게서 출생하여 신생아
담즙 정체증, 선천성 다발성 관절 구축증 및 원위
형 신세뇨관성 산증 소견을 보인 1례의 남아 및 1
례의 여아에서 ARC증후군을 경험하였기에 문헌고
찰과 함께 보고하는 바이다.
ARC (arthrogryposis multiplex congrnita, 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.
키워드
Arthrogryposis; Renal dysfunction; Cholestasis;
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