https://scholars.lib.ntu.edu.tw/handle/123456789/537135
標題: | FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase levels | 作者: | HUEY-LING CHEN Chang P.-S. Hsu H.-C. YEN-HSUAN NI HONG-YUAN HSU JYH-HONG LEE YUNG-MING JENG Shau W.-Y. MEI-HWEI CHANG |
公開日期: | 2002 | 出版社: | Mosby Inc. | 卷: | 140 | 期: | 1 | 起(迄)頁: | 119-124 | 來源出版物: | Journal of Pediatrics | 摘要: | To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11) mutations in Taiwanese children with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase (GGT) levels, we assessed 13 unrelated patients with infantile onset chronic intrahepatic cholestasis. Liver complementary DNA sequencing was performed in 7 infants for mutation analyses of FIC1 and BSEP genes. Two distinct liver histologic features were found. Group I (n = 5) was characterized by bland cholestasis and group 2 (n = 8) by giant cell transformation. Group 2 patients were associated with higher transaminase levels, α-fetoprotein levels, and early mortality. Novel FIC1 mutations were found in all 4 patients tested in group 1, including a 74-bp deletion, a 98-bp deletion, a nonsense, and 2 missense mutations. BSEP mutations were found in 2 of the 3 patients in group 2, including 2 missense mutations and a 1-bp deletion. Phenotypic characterization is useful to differentiate FIC1- from BSEP-related disease. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036161690&doi=10.1067%2fmpd.2002.119993&partnerID=40&md5=d106b946671d8dd56c652a25d56d67cd https://scholars.lib.ntu.edu.tw/handle/123456789/537135 |
ISSN: | 0022-3476 | DOI: | 10.1067/mpd.2002.119993 | SDG/關鍵字: | gamma glutamyltransferase; gene product; protein bsep; protein fic1; unclassified drug; article; biliary tract drainage; cell transformation; clinical article; controlled study; differential diagnosis; DNA sequence; enzyme assay; female; gene deletion; gene mutation; genetic analysis; giant cell; histopathology; human; infant; intrahepatic cholestasis; male; missense mutation; mortality; newborn; nonsense mutation; phenotype; priority journal; sequence analysis; Taiwan |
顯示於: | 醫學系 |
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