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

Zhendong WU; Guoqiang ZHOU; Yan XIANG; Xianling WANG; Jiandong SU; Sichun LIU

doi:10.12449/JCH240323

Volume 40 Issue 3

Mar. 2024

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Article Navigation > Journal of Clinical Hepatology > 2024 > 40(3): 581-584

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

DOI: 10.12449/JCH240323

Department of Gastroenterology，Dongguan Songshan Lake Tungwah Hospital，Dongguan，Guangdong 523808，China

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

Abstract

Abstract

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.
- Liver Cirrhosis,
- Protoporphyria， Erythropoietic,
- Diagnosis,
- Therapeutics

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References(16)

References

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

DOI: 10.12449/JCH240323

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

DOI: 10.12449/JCH240323

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