Seminars in Diagnostic Pathology
Volume 23, Issue 3 , Pages 182-189 , August 2006

Hepatitic inherited metabolic disorders

  • May Arroyo, MD, PhD
    • ,
  • James M. Crawford, MD, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests and correspondence: James M. Crawford, MD, PhD, Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, P.O. Box 100275, Gainesville, FL 32610-0275.

References 

  1. Schroeder WT, Miller MF, Woo SL, et al. Chromosomal localization of the human alpha 1-antitrypsin gene (PI) to 14q31-32. Am J Hum Genet. 1985;37:868–872
  2. Sveger T. The natural history of liver disease in alpha-1-antitrypsin deficient children. Acta Paediatr Scand. 1988;77:847–851
  3. Jeppsson JO. Amino acid substitution Glu leads to Lys alpha 1-antitrypsin PiZ. FEBS Lett. 1976;65:195–197
  4. Deutsch J, Becker H, Aubock L. Histopathological features of liver disease in alpha1-antitrypsin deficiency. Acta Paediatr Suppl. 1994;393:8–12
  5. Stoller JK. A1-antitrypsin deficiency. Lancet. 2005;365:2225–2236
  6. Valenti L, Dongiovanni P, Piperno A, et al. α1-Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage. Hepatology. 2006;44:857–864
  7. Carlson JA, Eriksson S, Hagerstrand I. Intra- and extracellular alpha 1-antitrypsin in liver disease with special reference to Pi phenotype. J Clin Pathol. 1981;34:1020–1025
  8. Iezzoni JC, Gaffey MJ, Stacy EK, et al. Hepatocytic globules in end-stage hepatic disease (Relationship to alpha 1-antitrypsin phenotype). Am J Clin Pathol. 1997;107:692–697
  9. Qizilbash A, Young-Pong O. Alpha-1-antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells. Am J Clin Pathol. 1983;79:697–702
  10. Bull PC, Thomas CR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menke’s gene. Nat Genet. 1993;5:327–337
  11. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson gene is a copper transporting ATPase with homology to the Menkes’ disease gene. Nat Genet. 1993;5:344–350
  12. Riordan SM, Williams R. The Wilson’s disease gene and phenotypic diversity. J Hepatol. 2001;34:165–171
  13. Ala A, Borjigin J, Rochwarger A, et al. Wilson disease in septuagenarian siblings: raining the bar for diagnosis. Hepatology. 2005;41:668–670
  14. Wilson DC, Phillips MJ, Cox DW, et al. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000;137:719–722
  15. Scott J, Gollan JL, Smaourina S, et al. Wilson’s disease, presenting as chronic active hepatitis. Gastroenterology. 1978;74:645–651
  16. Stapelbroek JM, Bollen CW, van Amstel JK, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. 2004;41:758–763
  17. Ludwig J, Moyer T, Rakela J. The liver biopsy diagnosis of Wilson’s disease. Am J Clin Pathol. 1994;102:443–446
  18. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–1073
  19. Fitz-Simmons SC. The changing epidemiology of cystic fibrosis. J Pediatr. 1993;122:1–9
  20. Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet. 2005;6:237–260
  21. Gabolde M, Hubert D, Guilloud-Bataille M, et al. The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. J Med Genet. 2001;38:310–311
  22. Durie PR. Cystic fibrosis: gastrointestinal and hepatic complications and their management. Semin Pediatr Gastroenterol Nutr. 1993;4:2
  23. Oppenheimer EH, Esterly JR. Hepatic changes in young infants with cystic fibrosis: possible relation to focal biliary cirrhosis. J Pediatr. 1975;86:683–689
  24. Knisely AS. Progressive familial intrahepatic cholestasis: A personal perspective. Pediatr Dev Biol. 2000;3:113–125
  25. 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
  26. Ujhazy P, Ortiz D, Misra S, et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology. 2001;34:768–775
  27. Bull LN, Carlton VE, Sticker NL, et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997;26:155–164
  28. Strautnieks SS, Kagalwalla AF, Tanner MS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998;20:233–238
  29. Jacquemin E, DeVree 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. Deleuze JF, Jacquemin E, Dubuisson C, et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology. 1996;23:904–908
  31. deVree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA. 1998;95:282–287
  32. 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

PII: S0740-2570(06)00174-2

doi: 10.1053/j.semdp.2006.11.005

Seminars in Diagnostic Pathology
Volume 23, Issue 3 , Pages 182-189 , August 2006

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