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The Orphan Liver Disease

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Liver Disease in Clinical Practice

Part of the book series: In Clinical Practice ((ICP))

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Abstract

Orphan diseases are typically very rare, making it challenging to develop novel treatments. This chapter covers three orphan liver diseases: (1) porphyria, (2) alpha-1 antitrypsin (A1AT) deficiency and (3) cystic fibrosis liver disease. Porphyrias are disorders of haem biosynthesis, with the resulting clinical features and treatments depending on which step of the metabolic pathway is impaired. In A1AT deficiency, patients develop lung and liver disease resulting from the inability of the liver to export A1AT. In patients with cystic fibrosis, viscous secretions can result in obstruction in the biliary tree and cause injury to cholangiocytes and hepatocytes. For each of these conditions, the chapter details the key pathogenetic mechanisms and disease management.

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Correspondence to Philip Newsome .

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Khan, R., Newsome, P. (2022). The Orphan Liver Disease. In: Cross, T. (eds) Liver Disease in Clinical Practice. In Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-031-10012-3_14

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  • DOI: https://doi.org/10.1007/978-3-031-10012-3_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-10011-6

  • Online ISBN: 978-3-031-10012-3

  • eBook Packages: MedicineMedicine (R0)

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