https://scholars.lib.ntu.edu.tw/handle/123456789/194954
Title: | Fic1 and Bsep Defects in Taiwanese Patients with Chronic Intrahepatic Cholestasis with Low γglutamyltranspeptidase Levels | Authors: | CHEN, HUEY-LING CHANG, PEI-SHIN HSU, HEY-CHI NI, YEN-HSUAN HSU, HONG-YUAN LEE, JIH-HORNG JENG, YUNG-MING SHAU, WEN-YI CHANG, MEI-HWEI |
Keywords: | α-fetoprotein;Benign recurrent intrahepatic cholestasis;Bile salt export pump;γ-Glutamyltranspeptidase;Polymerase chain reaction;Progressive familial intrahepatic cholestasis | Issue Date: | 2002 | Journal Volume: | v.140 | Journal Issue: | n.1 | Start page/Pages: | 119-124 | Source: | JOURNAL OF PEDIATRICS | Abstract: | 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 1 (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 FIC 1 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: | http://ntur.lib.ntu.edu.tw//handle/246246/94846 |
Appears in Collections: | 醫學系 |
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