지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 260 - 264 (5page)
이용수
초록· 키워드
오류제보하기
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Alagille D / 1987 / Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases / J Pediatr 110 : 195 ~ 200
Cho JM / 2015 / Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome / Pediatr Int 57 : 552 ~ 527
Crosnier C / 1999 / Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome / Gastroenterology 116 : 1141 ~ 1148
Deprettere A / 1987 / Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood / J Pediatr Gastroenterol Nutr 6 :
Emerick KM / 1999 / Features of Alagille syndrome in 92 patients: frequency and relation to prognosis / Hepatology 29 : 822 ~ 829
Cho JM / 2015 / Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome / Pediatr Int 57 : 552 ~ 527
Crosnier C / 1999 / Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome / Gastroenterology 116 : 1141 ~ 1148
Deprettere A / 1987 / Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood / J Pediatr Gastroenterol Nutr 6 :
Emerick KM / 1999 / Features of Alagille syndrome in 92 patients: frequency and relation to prognosis / Hepatology 29 : 822 ~ 829
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