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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 40 Issue 3
Mar.  2024
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Article Contents

Erythropoietic protoporphyria with liver cirrhosis as the main manifestation: A case report

DOI: 10.12449/JCH240323
Research funding:

Dongguan City’s Social Development Science and Technology (20221800902842)

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  • Corresponding author: LIU Sichun, liusichun66@sina.com (ORCID: 0009-0006-5143-1814)
  • Received Date: 2023-06-15
  • Accepted Date: 2023-07-27
  • Published Date: 2024-03-20
  • Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease that often involves skin, blood, and nervous systems, and EPP with the main manifestations of severe liver damage and acute abdominal pain is extremely rare. By reviewing the clinical data and genetic testing results of a patient with EPP, this article discusses the clinical features and pathogenic genes of this disease, in order to improve the understanding of the disease among hepatologists and achieve early diagnosis and treatment.

     

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