지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제18권 제3호
- 발행연도
- 2015.1
- 수록면
- 202 - 208 (7page)
이용수
초록· 키워드
오류제보하기
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consid-eration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid amelio-rates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Baussan C / 2004 / Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders / Acta Gastroenterol Belg 67 : 179 ~
Davit-Spraul A / 2009 / Progressive familial intrahepatic cholestasis / Orphanet J Rare Dis 4 : 1 ~
European Association for Study of Liver / 2012 / EASL Clinical Practice Guidelines: Wilson's disease / J Hepatol 56 : 671 ~ 685
Jacquemin E / 1997 / Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis / Hepatology 25 : 519 ~ 523
Jacquemin E / 2000 / Progressive familial intrahepatic cholestasis. Genetic basis and treatment / Clin Liver Dis 4 : 753 ~ 763
Davit-Spraul A / 2009 / Progressive familial intrahepatic cholestasis / Orphanet J Rare Dis 4 : 1 ~
European Association for Study of Liver / 2012 / EASL Clinical Practice Guidelines: Wilson's disease / J Hepatol 56 : 671 ~ 685
Jacquemin E / 1997 / Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis / Hepatology 25 : 519 ~ 523
Jacquemin E / 2000 / Progressive familial intrahepatic cholestasis. Genetic basis and treatment / Clin Liver Dis 4 : 753 ~ 763
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