Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Journal of Hepatology

Volumn 53, Issue 1, 2010, Pages 170-178

  Pawlikowska, Ludmila ^a,b   Strautnieks, Sandra ^c   Jankowska, Irena ^d   Czubkowski, Piotr ^d   Emerick, Karan ^e   Antoniou, Anthony ^f   Wanty, Catherine ^g   Fischler, Bjorn ^h   Jacquemin, Emmanuel ⁱ   Wali, Sami ^j   Blanchard, Samra ^k   Nielsen, Inge Merete ^l   Bourke, Billy ^m   McQuaid, Shirley ⁿ   Lacaille, Florence ^o   Byrne, Jane A ^c   van Eerde, Albertien M ^p   Kolho, Kaija Leena ^q   Klomp, Leo ^p   Houwen, Roderick ^p   Bacchetti, Peter ^a   Lobritto, Steven ^r   Hupertz, Vera ^s   McClean, Patricia ^t   Mieli Vergani, Giorgina ^c   Shneider, Benjamin ^u   Nemeth, Antal ^h   Sokal, Etienne ^v   Freimer, Nelson B ^w   Knisely, A S ^x   Rosenthal, Philip ^a   Whitington, Peter F ^y   Pawlowska, Joanna ^d   Thompson, Richard J ^c   Bull, Laura N ^b   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e UNIVERSITY OF CONNECTICUT   (United States)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

^g CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ BICÊTRE HOSPITAL   (France)

^j The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^k UNIVERSITY OF MARYLAND   (United States)

^l UNIVERSITY OF COPENHAGEN   (Denmark)

^m UNIVERSITY COLLEGE DUBLIN   (Ireland)

ⁿ OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^o HÔPITAL NECKER ENFANTS MALADES   (France)

^p UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^q UNIVERSITY OF HELSINKI   (Finland)

^r Och Spine at New York Presbyterian Hospitals   (United States)

^s LERNER RESEARCH INSTITUTE   (United States)

^t ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^u CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^v UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^w UNIVERSITY OF CALIFORNIA   (United States)

^x KING S COLLEGE HOSPITAL   (United Kingdom)

^y NORTHWESTERN UNIVERSITY   (United States)

more..

Author keywords

ABCB11; ATP binding cassette protein; ATP8B1; BSEP; Cholestasis; FIC1; Genetics; P type ATPase; Pediatrics; Transport protein

Indexed keywords

ABCB11 PROTEIN; ALKALINE PHOSPHATASE; AMINOTRANSFERASE; ATP8B1 PROTEIN; BILE SALT; PROTEIN; SERUM ALBUMIN; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN; ADENOSINE TRIPHOSPHATASE; ATP8B1 PROTEIN, HUMAN; BILE ACID; GAMMA GLUTAMYLTRANSFERASE;

ALBUMIN BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; BILE SALT EXPORT PUMP DEFICIENCY; BIOCHEMISTRY; CLINICAL FEATURE; CLINICAL STUDY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIARRHEA; DIGESTIVE SYSTEM DISEASE; DISEASE COURSE; FEMALE; GALLSTONE; GENE MUTATION; GROWTH; HEARING IMPAIRMENT; HEPATOBILIARY DISEASE; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; LEUKOCYTE COUNT; LIVER BIOPSY; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MULTINUCLEAR CELL; PANCREAS DISEASE; PNEUMONIA; PORTAL HYPERTENSION; PRIORITY JOURNAL; QUESTIONNAIRE; RETROSPECTIVE STUDY; RICKETS; SWEAT TEST; ADOLESCENT; ADULT; BLOOD; CHILD; CHOLESTASIS, INTRAHEPATIC; CLINICAL TRIAL; COMPARATIVE STUDY; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; GENETICS; INFANT; KAPLAN MEIER METHOD; METABOLISM; MULTICENTER STUDY; MUTATION; NEWBORN; ONSET AGE; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; YOUNG ADULT;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; BILE ACIDS AND SALTS; CHILD; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; GAMMA-GLUTAMYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIERS ESTIMATE; MALE; MUTATION; PHENOTYPE; PREGNANCY; RETROSPECTIVE STUDIES; YOUNG ADULT; KAPLAN-MEIER ESTIMATE;

EID: 77953587817     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2010.01.034     Document Type: Article

References (48)

1. Bull L.N., van Eijk M.J., Pawlikowska L., DeYoung J.A., Juijn J.A., Liao M., et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 18 (1998) 219-224
2. Strautnieks S.S., Bull L.N., Knisely A.S., Kocoshis S.A., Dahl N., Arnell H., et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20 (1998) 233-238
3. Knisely A.S., Bull L., and Shneider B.L. Low-γGT familial intrahepatic cholestasis (2008), Clinical Genetic Information Resource, Gene Reviews
4. Ujhazy P., Ortiz D., Misra S., Li S., Moseley J., Jones H., et al. Familial intrahepatic cholestasis. 1: Studies of localization and function. Hepatology 34 (2001) 768-775
5. Paulusma C.C., Folmer D.E., Ho-Mok K.S., de Waart D.R., Hilarius P.M., Verhoeven A.J., et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology 47 (2008) 268-278
6. Green R.M., Hoda F., and Ward K.L. Molecular cloning and characterization of the murine bile salt export pump. Gene 241 (2000) 117-123
7. Wang R., Salem M., Yousef I.M., Tuchweber B., Lam P., Childs S.J., et al. Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci USA 98 (2001) 2011-2016
8. Akita H., Suzuki H., Ito K., Kinoshita S., Sato N., Takikawa H., et al. Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump. Biochim Biophys Acta 1511 (2001) 7-16
9. Wang L., Soroka C.J., and Boyer J.L. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 110 (2002) 965-972
10. Klomp L.W., Vargas J.C., van Mil S.W., Pawlikowska L., Strautnieks S.S., van Eijk M.J., et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 40 (2004) 27-38
11. van Mil S., van der Woerd W.L., van der Brugge G., Sturm E., Jansen P.L., Bull L., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 127 (2004) 379-384
12. Strautnieks S.S., Byrne J.A., Pawlikowska L., Cebecauerova D., Rayner A., Dutton L., et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 134 (2008) 1203-1214
13. Alonso E.M., Snover D.C., Montag A., Freese D.K., and Whitington P.F. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 18 (1994) 128-133
14. Whitington P.F., Freese D.K., Alonso E.M., Schwarzenberg S.J., and Sharp H.L. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 18 (1994) 134-141
15. Lykavieris P., van Mil S., Cresteil D., Fabre M., Hadchouel M., Klomp L., et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 39 (2003) 447-452
16. Chen H.L., Chen P., Hsu H.C., Ni Y.H., Hsu H.Y., Lee J., et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low alpha-glutamyltranspeptidase levels. J Pediatr 140 (2002) 119-124
17. Bull L.N., Carlton V.E., Stricker N.L., Baharloo S., DeYoung J.A., Freimer N.B., et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 26 (1997) 155-164
18. Jansen P.L.M., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E., Hooiveld G.J., et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 117 (1999) 1370-1379
19. Wanty C., Joomye R., Van Hoorebeek N., Paul K., Otte J.B., Reding R., et al. Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy. Acta Gastroenterol Belg 67 (2004) 313-319
20. Oshima T., Ideda K., and Takasaka T. Sensorineural hearing loss associated with Byler disease. Tohoku J Exp Med 187 (1999) 83-88
21. Walkowiak J., Jankowska I., Pawlowska J., Bull L., Herzig K.H., and Socha J. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Scand J Gastroenterol 41 (2006) 1480-1483
22. Walkowiak J., Jankowska I., Pawlowska J., Strautnieks S., Bull L., Thompson R., et al. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. J Pediatr Gastroenterol Nutr 42 (2006) 416-418
23. Egawa H., Yorifuji T., Sumazaki R., Kimura A., Hasegawa M., and Tanaka K. Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. Liver Transpl 8 (2002) 714-716
24. Whitington P.F., and Whitington G.L. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 95 (1988) 130-136
25. Jacquemin E., Dumont M., Bernard O., Erlinger S., and Hadchouel M. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease). Eur J Pediatr 153 (1994) 424-428
26. Emond J.C., and Whitington P.F. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J Pediatr Surg 30 (1995) 1635-1641
27. Bourke B., Goggin N., Walsh D., Kennedy S., Setchell K.D., and Drumm B. Byler-like familial cholestasis in an extended kindred. Arch Dis Child 75 (1996) 223-227
28. Ismail H., Kalicinski P., Markiewicz M., Jankowska I., Pawlowska J., Kluge P., et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transplant 3 (1999) 219-224
29. Eiberg H., and Nielsen I.M. Linkage of cholestasis familiaris groenlandica/Byler-like disease to chromosome 18. Int J Circumpolar Health 59 (2000) 57-62
30. Klomp L.W., Bull L.N., Knisely A.S., van Der Doelen M.A., Juijn J.A., Berger R., et al. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology 32 (2000) 1337-1341
31. Fischler B., Papadogiannakis N., and Nemeth A. Clinical aspects on neonatal cholestasis based on observations at a Swedish tertiary referral centre. Acta Paediatr 90 (2001) 171-178
32. Kalicinski P.J., Ismail H., Jankowska I., Kaminski A., Pawlowska J., Drewniak T., et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 13 (2003) 307-311
33. Chen C.M., Ananthanarayanan M., Emre S., Neimark E., Bull L., Knisely A.S., et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 126 (2004) 756-764
34. Knisely A.S., Strautnieks S.S., Meier Y., Stieger B., Byrne J.A., Portmann B.C., et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 44 (2006) 478-486
35. Wachters-Hagedoorn R.E., Porte R.J., Gouw A.S., Bijleveld C.M., Verkade H.J., and Sturm E. Two sisters with progressive familial intrahepatic cholestasis. Ned Tijdschr Geneeskd 148 (2004) 1788-1792
36. Jankowska I., Pawłowska J., Ismail H., Bull L., Kluge P., Burda-Muszyńska B., et al. Trudności w diagnostyce i leczeniu poste{ogonek}puja{ogonek}cej rodzinnej cholestazy wewna{ogonek}trzwa{ogonek}trobowwej. In: Socha J., and Ryżko J. (Eds). Kazuistyka gastroenterologiczna u dzieci (2000), Lekarskie PZWL, Warsaw 165-172
37. Arnell H., Bergdahl S., Papadogiannakis N., Nemeth A., and Fischler B. Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg 43 (2008) 1312-1320
38. Byrne J.A., Strautnieks S.S., Ihrke G., Pagani F., Knisely A.S., Linton K.J., et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair BSEP processing and function or disrupt pre-mRNA splicing. Hepatology 49 (2009) 253-254
39. Efron B., and Tibshirani R. An introduction to the bootstrap (1993), Chapman and Hall, London 178-188, 214-218, 239-241, 398-403
40. Rothman K.J. No adjustments are needed for multiple comparisons. Epidemiology 1 (1990) 43-46
41. Savitz D.A., and Olshan A.F. Multiple comparisons and related issues in the interpretation of epidemiologic data. Am J Epidemiol 142 (1995) 904-908
42. Perneger T.V. What's wrong with Bonferroni adjustments. BMJ 316 (1998) 1236-1238
43. Bacchetti P. Peer review of statistics in medical research: the other problem. BMJ 324 (2002) 1271-1273
44. Noe J., Kullak-Ublick G.A., Jochum W., Stieger B., Kerb R., Haberl M., et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J Hepatol 43 (2005) 536-543
45. Hayashi H., Takada T., Suzuki H., Akita H., and Sugiyama Y. Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. Hepatology 41 (2005) 916-924
46. Plass J.R., Mol O., Heegsma J., Geuken M., de Bruin J., Elling G., et al. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. J Hepatol 40 (2004) 24-30
47. Mochizuki K., Kagawa T., Numari A., Harris M.J., Itoh J., Watanabe N., et al. Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells. Am J Physiol Gastrointest Liver Physiol 292 (2007) G818-G828
48. van Mil S.W., van Oort M.M., van den Berg I.E., Berger R., Houwen R.H., and Klomp L.W. Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice. Pediatr Res 56 (2004) 981-987