以肝硬化合并急性腹痛为表现的红细胞生成性原卟啉病1例

A case with erythropoietic protoporphyria manifested as liver cirrhosis complicated with acute abdominal pain

红细胞生成性原卟啉病(erythropoietic protoporphria, EPP)是临床上罕见的一种遗传代谢性疾病,以血红素合成过程中的亚铁螯合酶活性缺陷,致体内原卟啉IX水平升高为发病原理。该病临床表现形式多样,常累及皮肤、血液、神经系统,但以肝功能严重受损和急性腹痛为主要临床表现的较为罕见。本文现对1例以肝硬化合并急性腹痛为主要临床表现的EPP病例进行报道,为临床诊治该类疾病提供借鉴及参考。

Erythropoietic protoporphyria(EPP)is a rare genetic metabolic disease in clinic.The pathogenesis is that the level of protoporphyrin IX in vivo increases due to the deficiency of ferrochelatase activity during heme synthesis.The clinical manifestations of this disease are diverse,often involving skin,blood and nervous systems,while serious damage of liver function and acute abdominal pain are relatively rare.This paper reports a case diagnosed as EPP with liver cirrhosis and acute abdominal pain as the main clinical manifestation and provides reference for clinical diagnosis and treatment of this disease.