Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
Authors:
Milan Jirsa
Authors place of work:
Institut klinické a experimentální medicíny Praha, Laboratoř experimentální hepatologie, Pracoviště experimentální medicíny
Published in the journal:
Čas. Lék. čes. 2011; 150: 7-13
Category:
Review Article
Summary
Molecular and differential diagnosis of hereditary canalicular cholestasis and predominantly conjugated jaundice, both characterised by autosomal recessive pattern of inheritance and low prevalence, is described. Classification of the disorders is presented in the introduction. Detailed description of clinical, laboratory and histology findings and typical results of mutation analysis follows. Published and yet unpublished results obtained in the Laboratory of Experimental Hepatology, IKEM, since 2002, are presented at the end.
Key words:
progressive familial intrahepatic cholestasis, recurrent familial intrahepatic cholestasis, intrahepatic cholestasis of pregnancy, Dubin-Johnson syndrome, Rotor syndrome.
Zdroje
1. van Mil SW, Houwen RH, Klomp LW. Genetics of familial intrahepatic cholestasis syndromes. J Med Genet 2005; 42: 449–463.
2. Carlton VE, Pawlikowska L, Bull LN. Molecular basis of intrahepatic cholestasis. Ann Med 2004; 36: 606–617.
3. Chowdhury JR, Wolkoff AW, Chowdhury NR, Arias IM. Hereditary jaundice and disorders of bilirubin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8 ed. New York: McGraw Hill 2001; 3063–3101.
4. Elferink RP, Groen AK. The mechanism of biliary lipid secretion and its defects. Gastroenterol Clin North Am 1999; 28: 59–74, vi.
5. Jansen PL, Muller M. Genetic cholestasis: lessons from the molecular physiology of bile formation. Can J Gastroenterol 2000; 14: 233–238.
6. Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001; 21: 545–550.
7. 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: 307–311.
8. Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969; 117: 112–124.
9. 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: 219–224.
10. Klomp LW, Vargas JC, van Mil SW, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004; 40: 27–38.
11. Ujhazy P, Ortiz D, Misra S, et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 2001; 34: 768–775.
12. Paulusma CC, Groen A, Kunne C, et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology 2006; 44: 195–204.
13. van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001; 21: 535–544.
14. Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998; 20: 233–238.
15. Gerloff T, Stieger B, Hagenbuch B, et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 1998; 273: 10046–10050.
16. Jansen PL, Muller M. The molecular genetics of familial intrahepatic cholestasis. Gut 2000; 47: 1–5.
17. Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf DJ, Suchy FJ. Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor. J Biol Chem 2001; 276: 28857–28865.
18. Davis RA, Miyake JH, Hui TY, Spann NJ. Regulation of cholesterol-7alpha-hydroxylase: BAREly missing a SHP. J Lipid Res 2002; 43: 533–543.
19. Knisely AS, Strautnieks S, Meier Y, et al. Hepatocellular carcinoma in ten children under five years old with bile salt export pump deficiency. Hepatology 2006; 44: 478–486.
20. Scheimann AO, Strautnieks SS, Knisely AS, Byrne JA, Thompson RJ, Finegold MJ. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007; 150: 556–559.
21. Strautnieks SS, Byrne JA, Pawlikowska L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008; 134: 1203–1214.
22. de Vree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998; 95: 282–287.
23. Smit JJ, Schinkel AH, Oude Elferink RP, et al. Homozygous disruption of the murine mdr2 P–glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993; 75: 451–462.
24. Mauad TH, van Nieuwkerk CM, Dingemans KP, et al. Mice with homozygous disruption of the mdr2 P–glycoprotein gene. A novel animal model for studies of nonsuppurative inflammatory cholangitis and hepatocarcinogenesis. Am J Pathol 1994; 145: 1237–1245.
25. Smith AJ, de Vree JM, Ottenhoff R, Oude Elferink RP, Schinkel AH, Borst P. Hepatocyte-specific expression of the human MDR3 P-glycoprotein gene restores the biliary phosphatidylcholine excretion absent in Mdr2 (-/-) mice. Hepatology 1998; 28: 530–536.
26. Fickert P, Fuchsbichler A, Wagner M, et al. Regurgitation of bile acids from leaky bile ducts causes sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Gastroenterology 2004; 127: 261–274.
27. Elferink RP, Ottenhoff R, van Marle J, Frijters CM, Smith AJ, Groen AK. Class III P-glycoproteins mediate the formation of lipoprotein X in the mouse. J Clin Invest 1998; 102: 1749–1757.
28. Oude Elferink RP, Paulusma CC. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch 2007; 453: 601–610.
29. 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: 1448–1458.
30. van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol 2002; 36: 439–443.
31. Floreani A, Molaro M, Mottes M, et al. Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. Am J Med Genet 2000; 95: 450–453.
32. van Mil SW, van der Woerd WL, van der Brugge G, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004; 127: 379–384.
33. Stapelbroek JM, van Erpecum KJ, Klomp LW, et al. Nasobiliary drainage induces long–lasting remission in benign recurrent intrahepatic cholestasis. Hepatology 2006; 43: 51–53.
34. Lucena JF, Herrero JI, Quiroga J, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003; 124: 1037–1042.
35. Rosmorduc O, Hermelin B, Poupon R. Mdr3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001; 120: 1459–1467.
36. Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R. ABCB4 gene mutation–associated cholelithiasis in adults. Gastroenterology 2003; 125: 452–459.
37. 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: 693–694.
38. Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis 2007; 2: 29.
39. Lammert F, Marschall HU, Glantz A, Matern S. Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management. J Hepatol 2000; 33: 1012–1021.
40. Berkane N, Cocheton JJ, Brehier D, et al. Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy. A retrospective study of 19 cases. Acta Obstet Gynecol Scand 2000; 79: 941–946.
41. Glantz A, Marschall HU, Lammert F, Mattsson LA. Intrahepatic cholestasis of pregnancy: a randomized controlled trial comparing dexamethasone and ursodeoxycholic acid. Hepatology 2005; 42: 1399–1405.
42. Kondrackiene J, Beuers U, Kupcinskas L. Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy. Gastroenterology 2005; 129: 894–901.
43. Zapata R, Sandoval L, Palma J, et al. Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy. A 12-year experience. Liver Int 2005; 25: 548–554.
44. Binder T, Salaj P, Zima T, Vitek L. Randomized prospective comparative study of ursodeoxycholic acid and S-adenosyl-L--methionine in the treatment of intrahepatic cholestasis of pregnancy. J Perinat Med 2006; 34: 383–391.
45. Dixon PH, Weerasekera N, Linton KJ, et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000; 9: 1209–1217.
46. Gendrot C, Bacq Y, Brechot MC, Lansac J, Andres C. A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 2003; 40: e32.
47. Floreani A, Carderi I, Paternoster D, et al. Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther 2006; 23: 1649–1653.
48. Mullenbach R, Linton KJ, Wiltshire S, et al. ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet 2003; 40: e70.
49. Painter JN, Savander M, Ropponen A, et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 2005; 13: 435–439.
50. Paulusma CC, Oude Elferink RP. The canalicular multispecific organic anion transporter and conjugated hyperbilirubinemia in rat and man. J Mol Med 1997; 75: 420–428.
51. Stockel B, Konig J, Nies AT, Cui Y, Brom M, Keppler D. Characterization of the 5’-flanking region of the human multidrug resistance protein 2 (MRP2) gene and its regulation in comparison withthe multidrug resistance protein 3 (MRP3) gene. Eur J Biochem 2000; 267: 1347–1358.
52. Dubin IN. Chronic idiopathic jaundice; a review of fifty cases. Am J Med 1958; 24: 268–292.
53. Shani M, Seligsohn U, Gilon E, Sheba C, Adam A. Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. Q J Med 1970; 39: 549–567.
54. Wolkoff AW, Cohen LE, Arias IM. Inheritance of the Dubin–Johnson syndrome. N Engl J Med 1973; 288: 113–117.
55. Erlinger S, Dhumeaux D, Desjeux JF, Benhamou JP. Hepatic handling of unconjugated dyes in the Dubin-Johnson syndrome. Gastroenterology 1973; 64: 106–110.
56. Bar-Meir S, Baron J, Seligson U, Gottesfeld F, Levy R, Gilat T. 99mTc–HIDA cholescintigraphy in Dubin-Johnson and Rotor syndromes. Radiology 1982; 142: 743–746.
57. Bujanover Y, Bar-Meir S, Hayman I, Baron J. 99mTc–HIDA cholescintigraphy in children with Dubin-Johnson syndrome. J Pediatr Gastroenterol Nutr 1983; 2: 311–312.
58. Artiko V, Obradovic VV, Kostic K, Petrovic N, Markovic S, Popovic O. Cholescintigraphy in Dubin-Johnson syndrome. Nucl Med Rev Cent East Eur 1999; 2: 83–84.
59. Arias IM. Studies of chronic familial non-hemolytic jaundice with conjugated bilirubin in the serum with and without an unidentified pigment in the liver cells. Am J Med 1961; 31: 510–518.
60. Shieh CC, Chang MH, Chen CL. Dubin-Johnson syndrome presenting with neonatal cholestasis. Arch Dis Child 1990; 65: 898–899.
61. Kartenbeck J, Leuschner U, Mayer R, Keppler D. Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. Hepatology 1996; 23: 1061–1066.
62. Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J Biol Chem 2001; 276: 36923–36930.
63. Wolkoff AW, Wolpert E, Pascasio FN, Arias IM. Rotor’s syndrome. A distinct inheritable pathophysiologic entity. Am J Med 1976; 60: 173–179.
64. Wolpert E, Pascasio FM, Wolkoff AW, Arias IM. Abnormal sulfobromophthalein metabolism in Rotor’s syndrome and obligate heterozygotes. N Engl J Med 1977; 296: 1099–1101.
65. Fretzayas AM, Garoufi AI, Moutsouris CX, Karpathios TE. Cholescintigraphy in the diagnosis of Rotor syndrome. J Nucl Med 1994; 35: 1048–1050.
66. Fretzayas AM, Stavrinadis CS, Koukoutsakis PM, Sinaniotis CA. Diagnostic approach of Rotor syndrome with cholescintigraphy. Clin Nucl Med 1997; 22: 635–636.
67. Hrebicek M, Jirasek T, Hartmannova H, et al. Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. Liver Int 2007; 27: 485–491.
68. Cebecauerova D, Jirasek T, Budisova L, et al. Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert’s and Dubin-Johnson syndrome. Gastroenterology 2005; 129: 315–320.
69. Byrne JA, Strautnieks SS, Ihrke G, et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology 2009; 49: 553–567.
70. Treepongkaruna S, Gaensan A, Pienvichit P, et al. Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World J Gastroenterol 2009; 15: 4339–4342.
71. Lang C, Meier Y, Stieger B, et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug–induced liver injury. Pharmacogenet Genomics 2007; 17: 47–60.
Štítky
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistČlánok vyšiel v časopise
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