摘要:
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摘要:红细胞生成性原卟啉病(erythropoietic protoporphyria,EPP)是一种罕见的由遗
传异常所致的血液病,可表现为多系统损伤。以肝病为主要表现的EPP极为罕见,临床
易漏诊、误诊。现报道1例以肝功能异常为主要表现的EPP病例,期望提高肝病科医师
对EPP的全方位认识,加强多学科协作,争取早诊断、早治疗。
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Abstract: Erythropoietic protoporphyria (EPP) is a rare blood disease caused by genetic
abnormalities, which may manifest as multiple systemic damage. EPP with hepatopathy as
the main manifestation is rare and is easy to be missed or misdiagnosed. This paper reported
a case of EPP with abnormal liver function as the main manifestation. Through this case
report, we hope to improve the comprehensive understanding of the disease by hepatologists,
strengthen multidisciplinary cooperation, and strive for early diagnosis and treatment.
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