Publication

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

Jansen, PLM., Strautnieks, SS., Jacquemin, E., Hadchouel, M., Sokal, EM., Hooiveld, GJEJ., Koning, JH., De Jager-Krikken, A., Kuipers, F., Stellaard, F., Bijleveld, CMA., Gouw, A., Van Goor, H., Thompson, RJ. & Muller, M., Dec-1999, In : Gastroenterology. 117, 6, p. 1370-1379 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Jansen, PLM., Strautnieks, SS., Jacquemin, E., Hadchouel, M., Sokal, EM., Hooiveld, GJEJ., ... Muller, M. (1999). Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology, 117(6), 1370-1379.

Author

Jansen, PLM ; Strautnieks, SS ; Jacquemin, E ; Hadchouel, M ; Sokal, EM ; Hooiveld, GJEJ ; Koning, JH ; De Jager-Krikken, A ; Kuipers, F ; Stellaard, F ; Bijleveld, CMA ; Gouw, A ; Van Goor, H ; Thompson, RJ ; Muller, M. / Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. In: Gastroenterology. 1999 ; Vol. 117, No. 6. pp. 1370-1379.

Harvard

Jansen, PLM, Strautnieks, SS, Jacquemin, E, Hadchouel, M, Sokal, EM, Hooiveld, GJEJ, Koning, JH, De Jager-Krikken, A, Kuipers, F, Stellaard, F, Bijleveld, CMA, Gouw, A, Van Goor, H, Thompson, RJ & Muller, M 1999, 'Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis', Gastroenterology, vol. 117, no. 6, pp. 1370-1379.

Standard

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. / Jansen, PLM; Strautnieks, SS; Jacquemin, E; Hadchouel, M; Sokal, EM; Hooiveld, GJEJ; Koning, JH; De Jager-Krikken, A; Kuipers, F; Stellaard, F; Bijleveld, CMA; Gouw, A; Van Goor, H; Thompson, RJ; Muller, M.

In: Gastroenterology, Vol. 117, No. 6, 12.1999, p. 1370-1379.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Jansen PLM, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJEJ et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999 Dec;117(6):1370-1379.


BibTeX

@article{eca3b58fd1424079b9e50d06dc50593e,
title = "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis",
abstract = "Background & Aims: Progressive familiar intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum gamma-glutamyltransferase activity. Patients with normal gamma-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 gamma-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 BSEP staining. Staining for MRP2 showed a normal canalicular pattern in all but 1 of these samples. Ten of 19 patients showed BSEP gene mutations; BSEP protein expression was lacking in all 10 patients, No mutations were found in 9 of 19 patients, and in all except 1, BSEP protein expression was normal. Bile salt concentration in bile of BSEP-negative/MRP2-positive PFIC patients was 0.2 +/- 0.2 mmol/L (n = 9;",
keywords = "BYLER-DISEASE, GENETIC-HETEROGENEITY, CHENODEOXYCHOLIC ACID, P-GLYCOPROTEIN, LOCUS, LIVER, IDENTIFICATION, TRANSPORTER, 18Q21-Q22, CHILDREN",
author = "PLM Jansen and SS Strautnieks and E Jacquemin and M Hadchouel and EM Sokal and GJEJ Hooiveld and JH Koning and {De Jager-Krikken}, A and F Kuipers and F Stellaard and CMA Bijleveld and A Gouw and {Van Goor}, H and RJ Thompson and M Muller",
year = "1999",
month = "12",
language = "English",
volume = "117",
pages = "1370--1379",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W B SAUNDERS CO-ELSEVIER INC",
number = "6",

}

RIS

TY - JOUR

T1 - Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

AU - Jansen, PLM

AU - Strautnieks, SS

AU - Jacquemin, E

AU - Hadchouel, M

AU - Sokal, EM

AU - Hooiveld, GJEJ

AU - Koning, JH

AU - De Jager-Krikken, A

AU - Kuipers, F

AU - Stellaard, F

AU - Bijleveld, CMA

AU - Gouw, A

AU - Van Goor, H

AU - Thompson, RJ

AU - Muller, M

PY - 1999/12

Y1 - 1999/12

N2 - Background & Aims: Progressive familiar intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum gamma-glutamyltransferase activity. Patients with normal gamma-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 gamma-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 BSEP staining. Staining for MRP2 showed a normal canalicular pattern in all but 1 of these samples. Ten of 19 patients showed BSEP gene mutations; BSEP protein expression was lacking in all 10 patients, No mutations were found in 9 of 19 patients, and in all except 1, BSEP protein expression was normal. Bile salt concentration in bile of BSEP-negative/MRP2-positive PFIC patients was 0.2 +/- 0.2 mmol/L (n = 9;

AB - Background & Aims: Progressive familiar intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum gamma-glutamyltransferase activity. Patients with normal gamma-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 gamma-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 BSEP staining. Staining for MRP2 showed a normal canalicular pattern in all but 1 of these samples. Ten of 19 patients showed BSEP gene mutations; BSEP protein expression was lacking in all 10 patients, No mutations were found in 9 of 19 patients, and in all except 1, BSEP protein expression was normal. Bile salt concentration in bile of BSEP-negative/MRP2-positive PFIC patients was 0.2 +/- 0.2 mmol/L (n = 9;

KW - BYLER-DISEASE

KW - GENETIC-HETEROGENEITY

KW - CHENODEOXYCHOLIC ACID

KW - P-GLYCOPROTEIN

KW - LOCUS

KW - LIVER

KW - IDENTIFICATION

KW - TRANSPORTER

KW - 18Q21-Q22

KW - CHILDREN

M3 - Article

VL - 117

SP - 1370

EP - 1379

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 6

ER -

ID: 3832552