Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy

Acta Gastro-Enterologica Belgica

Volumn 67, Issue 4, 2004, Pages 313-319

  Wanty, C ^a   Joomye, R ^a   Van Hoorebeek, N ^a   Paul, K ^a   Otte, J B ^a   Reding, R ^a   Sokal, E M ^a  

^a Hôpital Saint Luc   (Belgium)

Author keywords

Biliary diversion; Byler's disease; Cholestasis; Familial intrahepatic cholestasis; Liver; Liver transplantation; Ursochenodesoxycholic acid

Indexed keywords

BILE ACID; GAMMA GLUTAMYLTRANSFERASE; URSODEOXYCHOLIC ACID;

BILE COMPOSITION; BILE FLOW; CLINICAL ARTICLE; FEMALE; GROWTH; HISTOPATHOLOGY; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; LIVER HISTOLOGY; LIVER TRANSPLANTATION; MALE; OUTCOMES RESEARCH; PATHOPHYSIOLOGY; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS; PRURITUS; REVIEW; SOCIAL LIFE; SURVIVAL RATE; WELLBEING;

BILE ACIDS AND SALTS; CHILD, PRESCHOOL; CHOLAGOGUES AND CHOLERETICS; CHOLESTASIS, INTRAHEPATIC; DISEASE PROGRESSION; FEMALE; GAMMA-GLUTAMYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; LIVER; LIVER TRANSPLANTATION; MALE; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; URSODEOXYCHOLIC ACID;

EID: 13244262821     PISSN: 00015644     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (24)

1. JACQUEMIN E., HADCHOUEL M. Genetic basis of progressive familial intrahepatic cholestasis. J. Hepatol., 1999, 31 : 377-381.
2. BULL L. Hereditary forms of intrahepatic cholestasis. Current opinion in Genetics and Development, 2002, 12 : 336-342.
3. TRAUNER M., MEIJER P.J., BOYER J.L. Mechanisms of disease : molecular pathogenesis of cholestasis. N. Eng. J. Med., 1999, 339(17) : 1217-1227.
4. SHNEIDER B.L. Genetic cholestasis syndromes. J. Ped. Gastroenterol. Nut., 1999, 28 : 124-131.
5. CARLTON V., KNISELY A., FREIMER N. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-22, the benign recurrent intrahepatic cholestasis region. Human Molecular Genetics, 1995, 4(6) : 1049-1053.
6. UJHAZY P., ORTIZ D., MISRA S., LI S., MOSELEY J., JONES H., ARIAS I. Familial Intrahepatic Cholestasis 1 : studies of localization and function. Hepatology, 2001, 34 (4) : 768-775.
7. EPPENS E., VAN MIL S., DE VREE J., MOK K., JUIJN J., OUDE ELFERINK R., BERGER R., HOUWEN R., KLOMP L. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J. Hepatol., 2001, 35 : 436-443.
8. BULL L., VEN EIJK M., PAWLIKOSWSKA L., DEYOUNG J., JUIJN J., LIAO M., KLOMP L., LOMRI N., BERGER R., SCHARSCHMIDT B., KNISELY A., HOUWEN R., FREIMER N. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nature Genetics, 1998, 18 : 219-224.
9. KLOMP L., BULL L., KNISELY A., VAN DER DOELEN M., JUIJN J., BERGER R., FORGET S., NIELSEN I., EIBERG H., HOUWEN R. A missense mutation in FIC1 is associated with Greenland Familial Cholestasis. Hepatology, 2000, 32 (6) : 1337-1341.
10. STRAUTNIEKS S., KAGALWALLA A., TANNER M., KNISELY A., BULL L., FREIMER N., KOCOSHIS S., GARDINER R., THOMPSON R. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am. J. Hum. Genet., 1997, 61 : 630-633.
11. STRAUTNIEKS S., BULL L., KNISELY A., KOCOSHIS S., DAHL N., ARNELL H., SOKAL E., DAHAN K., CHILDS S., LING V., TANNER S., KAGALWALLA A., NEMETH A., PAWLOWSKA J., BAKER A., MIELI-VERGANI G., FREIMER N., GARDINER M., THOMPSON R. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genetics, 1998, 20 : 233-238.
12. JANSEN P.L., STRAUTNIEKS S.S., JACQUEMIN E., HADCHOUEL M., SOKAL EM., HOOIVELD G.J., KONING J.H., JAGER-KRIKKEN A., KUIPERS F., STELLAARD F., BIJLEVELD C.M., GOUW A., VAN GOOR H., THOMPSON R.J., MULLER M. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology, 1999, 117(6) : 1370-1379.
13. DELEUZE J.F., JACQUEMIN E., DUBUISSON C., CRESTEIL D., DUMONT M., ERLINGER S., BERNARD O., HADCHOUEL M. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology, 1996, 23 (4) : 904-908.
14. MARLEEN J., DE VREE L., JACQUEMIN E., STURM E., CRESTEIL D., BOSMA P., ATEN J., DELEUZE J.F., DESROCHERS M., BURDELSKl M., BERNARD O., OUDE HELFERlNK R., HADCHOUEL M. Mutations in the MDR3 gene cause progressive intrafamilial cholestasis. Proc Natl Acad Sci USA, 1998, 95 : 282-287.
15. JACQUEMIN E., DE VREE J.M., CRESTEIL D., SOKAL E.M., STURN E., DUMONT M., SCHEFFER G.L., PAUL M., BURDELSKI, BOSMA P.J., BERNARD O., HADCHOUEL M., ELFERINK R.P. The wide spectrum of multidrug resistance 3 deficiency : from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology, 2001, 120 (6) : 1549-52.
16. WHITINGTON P.F., WHITINGTON G.L. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology, 1988, 95 : 130-136.
17. Bull L.N., CARLTON V.E.H., STRICKER N.L., BAHARLOO S., DEYOUNG J.A., FREIMER N.B., MAGID M.S., KAHN E., MARKOWITZ J., DICARLO F.J., MCLOUGHLIN L., BOYLE J.T., DAHMS B.B., FAUGHT P.R., FITZERALD J.F., PICCOLI D.A., WITZLEBEN C.L., O'CONNELL N.C., SETCHELL K.D.R., AGOSTINI R.M., KOCOSHlS S.A., REYES J., KNISELY A.S. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] an dByler syndrome) : evidence for heterogeneity. Hepatology, 1997, 26 : 155-164.
18. SOKAL E.M. Complications and treatment of paediatric chronic liver disease. Int. Semin. Paediatr. Gastroenterol. Nut., 1998, 7 (4) : 9-15.
19. JACQUEMIN E., HERMANS D., MYARA A., HABES D., DEBRAY D., HADCHOUEL M., SOKAL EM., BERNARD O. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology, 1997, 25 : 519-523.
20. YERUSHALMI B., SOKOL R.J., NARKEWICZ M.R., SMITH D., KARRER P.M. Use of rifampin for severe pruritus in children with chronic cholestasis. Journal of Pediatric Gastroenterology and Nutrition, 1999, 29 (4) : 442-447.
21. EMOND J.C., WHITINGTON P. Selective surgical management of PFIC. J. Pediatr. Surg., 1995, 30 (12) : 1635-1641.
22. MELTER M., RODECK B., KARDORFF R., HOYER P., PETERSEN C., BALLAUFF A., BRODEHL J. Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients. Am. J. Gastr., 2000, 95 (12): 3522-3528.
23. MARLEEN J., DEVREE L., OTTENHOFF R., BOSMA P.J., SMITH A.J., ATEN J., OUDE ELFERINK R.P.J. Correction of liver disease by hepatocyte transplantation in a mouse model of progresssive familial intrahepatic cholestasis. Gastroenterology, 2000, 119: 1720-1730.
24. SOKAL E.M., SMETS F., BOURGOIS A., VAN MALDERGEM L., BUTS J.P., REDING R., OTTE J.B., EVRARD V., LATINNE D., VINCENT M.F., MOSER A., SORIANO H.E. Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. Transplantation, 2003, 76 (4): 735-8.