Progressive familial intrahepatic cholestasis: A single-center experience of living-donor liver transplantation during two decades in Japan

Clinical Transplantation

Volumn 25, Issue 5, 2011, Pages 776-785

  Hori, Tomohide ^a,b   Egawa, Hiroto ^a   Takada, Yasutsugu ^a   Ueda, Mikiko ^a   Oike, Fumitaka ^a   Ogura, Yasuhiro ^a   Sakamoto, Seisuke ^a   Kasahara, Mureo ^a   Ogawa, Kohei ^a   Miyagawa Hayashino, Aya ^a   Yonekawa, Yukihide ^a   Yorifuji, Tohru ^a   Watanabe, Ken Ichiro ^a   Doi, Hiraku ^a   Nguyen, Justin H ^b   Chen, Feng ^b   Baine, Ann Marie T ^b   Gardner, Lindsay B ^b   Uemoto, Shinji ^a  

^a KYOTO UNIVERSITY HOSPITAL   (Japan)

^b MAYO CLINIC   (United States)

Author keywords

Byler's disease; Liver transplantation; Living donor; Progressive familial intrahepatic cholestasis; Steatosis

Indexed keywords

METHYLPREDNISOLONE; OKT 3; PREDNISOLONE; TACROLIMUS;

ACUTE GRAFT REJECTION; ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE HEPATITIS; CHILD; CHRONIC GRAFT REJECTION; CLINICAL ARTICLE; END STAGE LIVER DISEASE; ENDOSCOPIC THERAPY; ESOPHAGUS VARICES; FAMILIAL DISEASE; FEMALE; GRAFT RECIPIENT; HEPATOJEJUNOSTOMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOSUPPRESSIVE TREATMENT; INFANT; INTRAHEPATIC CHOLESTASIS; JAPAN; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FIBROSIS; LIVER GRAFT REJECTION; LIVER TRANSPLANTATION; LIVING DONOR; LIVING DONOR LIVER TRANSPLANTATION; MALE; NONALCOHOLIC FATTY LIVER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS; RETRANSPLANTATION; SCHOOL CHILD; SPLENOMEGALY; STEATOSIS; STEROID THERAPY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DISEASE PROGRESSION; FATTY LIVER; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; JAPAN; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; LIVING DONORS; MALE; PROGNOSIS; SURVIVAL RATE; TIME FACTORS;

EID: 80054123164     PISSN: 09020063     EISSN: 13990012     Source Type: Journal    
DOI: 10.1111/j.1399-0012.2010.01368.x     Document Type: Article

References (39)

1. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009: 4: 1.
2. Jacquemin E, De Vree JM, Cresteil D et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001: 120: 1448.
3. Balistreri WF. Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease. Gastroenterol Clin North Am 1999: 28: 145.
4. Jacquemin E. Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Clin Liver Dis 2000: 4: 753.
5. Bull LN, Carlton VE, Stricker NL et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997: 26: 155.
6. Jansen PL, Strautnieks SS, Jacquemin E et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999: 117: 1370.
7. Van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001: 21: 535.
8. Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001: 21: 545.
9. Chen HL, Chang PS, Hsu HC et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 2002: 140: 119.
10. Lykavieris P, Van Mil S, Cresteil D 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 2003: 39: 447.
11. Jacquemin E, Hermans D, Myara A et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997: 25: 519.
12. Ganne-Carrie N, Baussan C, Grando V, Gaudelus J, Cresteil D, Jacquemin E. Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills. J Hepatol 2003: 38: 693.
13. Hayashi H, Sugiyama Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology 2007: 45: 1506.
14. Balistreri WF, Bezerra JA, Jansen P, Karpen SJ, Shneider BL, Suchy FJ. Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference. Hepatology 2005: 42: 222.
15. De Vree JM, Ottenhoff R, Bosma PJ, Smith AJ, Aten J, Oude Elferink RP. Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology 2000: 119: 1720.
16. Boyer JL. Nuclear receptor ligands: rational and effective therapy for chronic cholestatic liver disease? Gastroenterology 2005: 129: 735.
17. Egawa H, Teramukai S, Haga H et al. Present status of ABO-incompatible living donor liver transplantation in Japan. Hepatology 2008: 47: 143.
18. Miyagawa-Hayashino A, Egawa H, Yorifuji T et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl 2009: 15: 610.
19. Brunt EM. Nonalcoholic steatohepatitis: definition and pathology. Semin Liver Dis 2001: 21: 3.
20. Intraobserver and interobserver variations in liver biopsy interpretation in patients with chronic hepatitis C. The French METAVIR Cooperative Study Group. Hepatology 1994: 20: 15.
21. Chen F, Ananthanarayanan M, Emre S et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004: 126: 756.
22. Bassas A, Chehab M, Hebby H et al. Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis. Transplant Proc 2003: 35: 3003.
23. Arnell H, Bergdahl S, Papadogiannakis N, Nemeth A, Fischler B. Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg 2008: 43: 1312.
24. Kalicinski PJ, Ismail H, Jankowska I et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 2003: 13: 307.
25. Modi BP, Suh MY, Jonas MM, Lillehei C, Kim HB. Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome. J Pediatr Surg 2007: 42: 800.
26. Bustorff-Silva J, Sbraggia Neto L, Olimpio H et al. Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg 2007: 42: 1337.
27. Stapelbroek JM, Van Erpecum KJ, Klomp LW et al. Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology 2006: 43: 51.
28. Soubrane O, Gauthier F, DeVictor D et al. Orthotopic liver transplantation for Byler disease. Transplantation 1990: 50: 804.
29. Strautnieks SS, Byrne JA, Pawlikowska L et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008: 134: 1203.
30. Knisely AS, Strautnieks SS, Meier Y et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006: 44: 478.
31. Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001: 21: 551.
32. Demeilliers C, Jacquemin E, Barbu V et al. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology 2006: 43: 1125.
33. Bull LN, Van Eijk MJ, Pawlikowska L et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998: 18: 219.
34. Van Mil SW, Milona A, Dixon PH et al. Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. Gastroenterology 2007: 133: 507.
35. Paulusma CC, Folmer DE, Ho-Mok KS et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology 2008: 47: 268.
36. Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001: 120: 1459.
37. Ortiz D, Arias IM. MDR3 mutations: a glimpse into pandora's box and the future of canalicular pathophysiology. Gastroenterology 2001: 120: 1549.
38. Cutillo L, Najimi M, Smets F et al. Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transplant 2006: 10: 570.
39. Pauli-Magnus C, Meier PJ. Hepatobiliary transporters and drug-induced cholestasis. Hepatology 2006: 44: 778.