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Journal of Clinical Hepatology ; (12): 581-584, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1013140

RESUMO

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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