小兒科CHEN, HUEY-LINGHUEY-LINGCHENCHANG, PEI-SHINPEI-SHINCHANGHSU, HEY-CHIHEY-CHIHSULEE, JIH-HORNGJIH-HORNGLEENI, YEN-HSUANYEN-HSUANNIHSU, HONG-YUANHONG-YUANHSUJENG, YUNG-MINGYUNG-MINGJENGCHANG, MEI-HWEIMEI-HWEICHANG2008-12-052018-07-112008-12-052018-07-112001http://ntur.lib.ntu.edu.tw//handle/246246/88741MDR3 P-glycoprotein mediates canalicular phospholipid transport in hepatocytes. Defects in the MDR3 gene have been found to cause a subtype of progressive familial intrahepatic cholestasis (PFIC) with highγ- glutamyltranspeptidase (GGT) levels. Affected children develop proliferation of biliary epithelium, portal inflammation, and biliary cirrhosis. The frequency of MDR3 mutations in patients with high GGT-PFIC is unclear. There have been no asian patients reported to carry MDR3 mutations . To determine the role of MDR3 defects in chronic cholestatic patients, we studied six Taiwanese children from five families who presented high GGT-PFIC among 47 patients with infantile onset chronic intrahepatic cholestasis. Sequence analysis of MDR3 cDNA from liver tissues was performed. Only one patient had mutation in the MDR3 gene. This patient had a homozygous 7-19-bp deletion (nucleotide 287 to 1005) of liver cDNA encompassing exon 5 to 9 and leading to protein truncation. The onset age was 1 y in contrast with the ot five families who presented high GGT- PFIC among 47 patients with infantile onset chronic intrahepatic cholestasis.en-USjournal article