Advertisement

Kernicterus pp 189-201 | Cite as

Progressive Familial Intrahepatic Cholestasis

  • David W. McCandless
Chapter
Part of the Contemporary Clinical Neuroscience book series (CCNE)

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a progressive disorder that affects children. It is initially characterized by intrahepatic cholestasis which worsens over time. It may present with jaundice in the first weeks of life, or may appear after several months. Byler’s disease, another term for one type of PFIC, was coined after an immigrant who brought the disorder to the USA. PFIC is a rare inherited disorder in which at least three subtypes have been identified, and called PFIC-1, PFIC-2, and PFIC-3. These three subtypes carry descriptive names which partially describe them: PFIC-1 is called familial intrahepatic cholestasis, PFIC-2 may be called bile salt export pump deficiency, and PFIC-3 is multidrug resistant-associated protein deficiency. A mild not as severe form of PFIC is called benign recurrent intrahepatic cholestasis.

Keywords

Bile Acid Hepatic Encephalopathy Biliary Atresia Acute Liver Failure Intrahepatic Cholestasis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Ahboucha, S., and Butterworth, R. (2007) The neurosteroid system: an emerging therapeutic target for hepatic encephalopathy. Metab. Brain Dis. 22:291–308PubMedCrossRefGoogle Scholar
  2. Anderson, G. (2004) Pharmacogenetics and enzyme induction/inhibition properties of antiepileptic drugs. Neurology 63:S24–S29CrossRefGoogle Scholar
  3. Balistreri, W. (1997) Bile acid therapy in pediatric hepatobiliary disease: the role of ursodeoxycholic acid. J. Pediatr. Gastro. Nutrit. 24:573–589CrossRefGoogle Scholar
  4. Belanger, M., and Butterworth, R. (2005) Acute liver failure: A critical appraisal of available animal models. Met. Brain Dis. 20:409–424CrossRefGoogle Scholar
  5. Cauli, O., et al. (2005) Altered modulation of motor activity by group 1 metabotropic glutamate receptors in the nucleus accumbens in hyperammonemic rats. Metab. Brain Dis. 20:347–358PubMedCrossRefGoogle Scholar
  6. Chalmers, T. (1960) Pathogenesis and treatment of hepatic failure. N. Engl. J. Med. 263:23–30PubMedCrossRefGoogle Scholar
  7. Chenard-Neu, M., et al. (1996) Auxiliary liver transplantation: regeneration of the native liver and outcome in 30 patients with fulminant hepatic failure. Hepatology 23:1119–1127PubMedGoogle Scholar
  8. de Lacerda, G. (2008) Treating seizures in renal and hepatic failure. J. Epil. Clin. Neurophys. 14:1–8Google Scholar
  9. de Vree, J., et al. (1998) Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc. Natl. Acad. Sci. 98:282–287CrossRefGoogle Scholar
  10. Eleftheriadis, N., et al. (2003) Status epilepticus as a manifestation of hepatic encephalopathy. Acya Neurol. Scand. 107:142–144CrossRefGoogle Scholar
  11. Gimson, A. (1996) Fulminant and late onset hepatic failure Brit. J. Anaesth. 77:90–98CrossRefGoogle Scholar
  12. Hoofnagle, J., et al. (1995) Fulminant hepatic failure: summary of a workshop. Hepatology 21:240–252PubMedGoogle Scholar
  13. Jansen, P., and Muller, M. (2000) The molecular genetics of familial intrahepatic cholestasis. GUT 47:1–5PubMedCrossRefGoogle Scholar
  14. Karrer, F., et al. (1984) A reproducible large animal model of acute hepatic failure. Curr. Surg. 41:464–467PubMedGoogle Scholar
  15. Khalil, A. (2000) Byler disease progressive familial intrahepatic cholestasis Hepatology 32:1337–1341CrossRefGoogle Scholar
  16. Ko, J., et al. (2007) Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J. Korean Med. Sci. 22:952–956PubMedCrossRefGoogle Scholar
  17. Krahenbuhl, S., et al. (1995) Toxicity of bile acids on the electron transport chain of isolated rat liver mitochondria. Hepatology 22:607–612PubMedGoogle Scholar
  18. Llansola, M., et al. (2007) NMDA receptors in hyperammonemia and hepatic encephalopathy. Metab. Brain Dis. 22:321–336PubMedCrossRefGoogle Scholar
  19. Mohanty, A., and Schiff, E. (2009) The dilemma of idiopathic fulminant hepatic failure. Gastroent. Hepatol. 5:48–52Google Scholar
  20. Rao, K., and Norenberg, M. (2007) Aquaporin-4 in hepatic encephalopathy. Metab. Brain Dis. 22:265–276CrossRefGoogle Scholar
  21. Roger, V., et al. (1996) A good model of acute hepatic failure: 95% hepatectomy. Chirurgie 121:470–473PubMedGoogle Scholar
  22. Romero-Gomez, M. (2005) Role of phosphate activated glutaminase in the pathogenesis of hepatic encephalopathy. Metab. Brain Dis. 20:319–326PubMedCrossRefGoogle Scholar
  23. Saheki, T., et al. (2004) Adult onset type 2 citrullinemia and idiopathic neonatal hepatitus caused by citrin deficiency. Mol. Genet. Metab. 81:s20–s26PubMedCrossRefGoogle Scholar
  24. Sass, D., and Shakil, A. (2005) Fulminant hepatic failure. Liver Transpl. 11:594–605PubMedCrossRefGoogle Scholar
  25. Schenker, S., et al. (1967) Studies on the intracerebral toxicity of ammonia. J. Clin. Med. 46:838–848Google Scholar
  26. Shet, R. (2004) Metabolic concerns associated with antiepileptic medications. Neurology 63:24–29CrossRefGoogle Scholar
  27. Shigematsu, Y., et al. (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J. Chrom B Analyt. Tech. Biomed. Life Sci. 776:39–48CrossRefGoogle Scholar
  28. Smetana, H., Edlow, J., and Glunz, P. (1965) Neonatal jaundice. Arch. Path. 80:553–574PubMedGoogle Scholar
  29. Soylu, A., et al. (2008) Intrahepatic cholestasis in subclinical and overt hyperthyroidism: two case reports. J. Med. Case Rep. 2:116–123PubMedCrossRefGoogle Scholar
  30. van Nievwkerk, C., et al. (1996) Progressive familial intrahepatic cholestasis Gastroent 111:165–171CrossRefGoogle Scholar
  31. Wang, X., and Anderson, R. (1994) Hepatocyte transplantation : a potential treatment for acute liver failure. Scand. J. Gastroent. 30:193–200CrossRefGoogle Scholar
  32. WHO Severe and complicated malaria: A report of the WHO malaria action programme. Trans. R. Soc. Med. Hyg. 80:1–50Google Scholar
  33. Wright, G., et al. (2007) Brain cytokine flux in acute liver failure and its relationship with intracranial hypertension. Metab. Brain Dis. 22:375–388PubMedCrossRefGoogle Scholar
  34. Zieve, L. (1966) Pathogenesis of hepatic coma. Arch. Int. Med. 118:211–220CrossRefGoogle Scholar
  35. Zimmerman, H. (1986) Effects of alcohol on other hepatotoxins. Alcohol. Clin. Exp. Res. 10:3–15PubMedCrossRefGoogle Scholar
  36. Rose, C., and Felipo, V. (2005) Limited capacity for ammonia removal by brain in chronic liver failure: potential role of nitric oxide. Metab. Brain Dis. 20:275–284PubMedCrossRefGoogle Scholar
  37. Tobias, J. (2002) Ursodeoxycholic acid in the treatment of cholestasis and hyperbilirubinemia in pediatric intensive care unit patients. South. Med. J. online Nov 1, 2002, a09723387Google Scholar
  38. Bhatia, V., Batra, Y., and Acharya, S. (2004) Prophylactic phenytoin does not improve cerebral edema or survival in acute liver failure-a controled clinical trial. J. Hepatol. 41:89–96PubMedCrossRefGoogle Scholar
  39. Javitt, J. (1966) Cholestasis in rats induced by taurolithocholate. Nature 210:599–604CrossRefGoogle Scholar
  40. Kelly, J., et al. (1992) An improved model of acetaminophen induced fulminant hepatic failure in dogs. Hepatology 15:329–335PubMedCrossRefGoogle Scholar
  41. Calmus, Y., et al. (1990) Hepatic expression of class I and class II major histocompatability complex molecules in primary biliary. Hepatology 11:12–15PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Cell Biology & AnatomyRosalind Franklin University of Medicine & Science, Chicago Medical SchoolNorth ChicagoUSA

Personalised recommendations