The porphyrias

Eric Gou, John D. Phillips, Karl Anderson

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Inherited disorders of intrahepatic cholestasis include entities such as Alagille syndrome, due to mutations in the JAG1 or NOTCH2 genes, progressive familial cholestatic disorders related to mutations in the genes that code for hepatocyte canalicular transporters, bile acid synthetic disorders, and rarer entities such as North American Indian childhood cirrhosis, familial hypercholanemia and Gracile syndrome. Principal distinguishing characteristics of the major inherited disorders of intrahepatic cholestasis are shown in Table 1. Disorders of bilirubin metabolism include Crigler-Najjar, Gilbert, Dubin-Johnson and Rotor syndromes.

Original languageEnglish (US)
Title of host publicationMetabolic Diseases
Subtitle of host publicationFoundations of Clinical Management, Genetics, and Pathology
PublisherIOS Press
Pages543-576
Number of pages34
ISBN (Electronic)9781614997184
ISBN (Print)9781614997177
DOIs
StatePublished - Jan 6 2017

Keywords

  • Alagille syndrome
  • Bile acid synthetic disorders
  • Disorders of bilirubin metabolism
  • Inherited intrahepatic cholestatic disorders
  • Miscellaneous causes of low-GGT and high-GGT intrahepatic cholestasis
  • Progressive familial intrahepatic cholestasis

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Gou, E., Phillips, J. D., & Anderson, K. (2017). The porphyrias. In Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology (pp. 543-576). IOS Press. https://doi.org/10.3233/978-1-61499-718-4-577