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Liver and intrahepatic bile ducts-nontumor

Metabolic diseases

Hereditary hepatic coproporphyria


Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 30 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.

General
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● Autosomal dominantly inherited hepatic porphyria, due to mutation in coproporphyrinogen oxidase (CPOX) gene (Clin Genet 2012;81:249)
● Causes partial defect of CPOX, sixth enzyme of heme biosynthesis
● Patients may develop acute life-threatening attacks with neurovisceral or rarely cutaneous symptoms (Wikipedia)

Case reports
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● 35 year old woman with rapidly progressive liver cirrhosis (Arch Pathol Lab Med 2002;126:751)

End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > Hereditary hepatic coproporphyria


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