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
- 저널정보
- 대한병리학회 Journal of Pathology and Translational Medicine Journal of Pathology and Translational Medicine 제53권 제4호
- 발행연도
- 2019.1
- 수록면
- 253 - 260 (8page)
이용수
초록· 키워드
오류제보하기
Background: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. Methods: The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations. Results: The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT. Conclusions: PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.
목차
등록된 정보가 없습니다.
참고문헌 (28)
참고문헌 신청
Davit-Spraul A / 2009 / Progressive familial intrahepatic cholestasis / Orphanet J Rare Dis 4:1
Jacquemin E. / 2012 / Progressive familial intrahepatic cholestasis / Clin Res Hepatol Gastroenterol 36(Suppl 1):S26~S35
Clayton RJ / 1969 / Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred / Am J Dis Child 117:112~124
Bull LN / 1998 / A gene encoding a Ptype ATPase mutated in two forms of hereditary cholestasis / Nat Genet 18:219~224
Strautnieks SS / 1998 / A gene encoding a liverspecific ABC transporter is mutated in progressive familial intrahepatic cholestasis / Nat Genet 20:233~238
Jacquemin E. / 2012 / Progressive familial intrahepatic cholestasis / Clin Res Hepatol Gastroenterol 36(Suppl 1):S26~S35
Clayton RJ / 1969 / Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred / Am J Dis Child 117:112~124
Bull LN / 1998 / A gene encoding a Ptype ATPase mutated in two forms of hereditary cholestasis / Nat Genet 18:219~224
Strautnieks SS / 1998 / A gene encoding a liverspecific ABC transporter is mutated in progressive familial intrahepatic cholestasis / Nat Genet 20:233~238
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