作者
Peter LM Jansen, Sandra S Strautnieks, Emmanuel Jacquemin, Michelle Hadchouel, Etienne M Sokal, Guido JEJ Hooiveld, Johan H Koning, Alie de Jager-Krikken, Folkert Kuipers, Frans Stellaard, Charles Bijleveld, Annette Gouw, Harry van Goor, Richard J Thompson, Michael Müller
发表日期
1999/12/31
期刊
Gastroenterology
卷号
117
期号
6
页码范围
1370-1379
出版商
WB Saunders
简介
Background & Aims
Progressive familial intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum γ-glutamyltransferase activity. Patients with normal γ-glutamyltransferase activity have mutations of the FIC1 locus on chromosome 18q21 or mutations of the BSEP gene on chromosome 2q24. Also, patients with bile acid synthesis defects have low γ-glutamyltransferase activity. We investigated expression of the bile salt export pump (BSEP) in liver samples from patients with a PFIC phenotype and correlated this with BSEP gene mutations.
Methods
BSEP and multidrug resistance protein 2 (MRP2) expressions were studied by immunohistochemistry in liver specimens of 28 patients and BSEP gene mutation analysis in 19 patients. Bile salt kinetics were studied in 1 patient.
Results
Sixteen of 28 liver samples showed no canalicular …
引用总数
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PLM Jansen, SS Strautnieks, E Jacquemin… - Gastroenterology, 1999