摘要
卟啉病是一种与血红素生物合成途径中酶活性缺乏有关的遗传代谢性疾病,其中以肝功能损害为表现的卟啉病较为罕见,易造成误诊、漏诊。我中心在2014年11月—2019年12月共收治6例伴有肝功能损害卟啉病患者,现对其临床表现、肝脏损伤指标、肝脏病理特征、基因检测结果、治疗及转归进行总结分析,以期提高临床医生对伴有肝功能损害卟啉病的认识。
Porphyria is a genetic metabolic disease related to the lack of enzyme activity in heme biosynthesis pathway,among which,porphyria characterized by liver function damage are rare,and therefore prone to misdiagnosis and missed diagnosis.From November 2014to December 2019,6 cases of porphyria with liver function impairment were admitted to our center.To better understand porphyria with liver function impairment,the clinical presentations,liver injury indices,liver pathological features,gene detection results,treatment and prognosis were summarized and analyzed.
作者
彭宇辉
宁鹏
刘晓燕
李会
李晨
苏海滨
PENG Yu-hui;NING peng;LIU Xiao-yan;LI hui;LI Chen;SU Hai-bin(Department of Liver Disease,Fifth Medical Center of Chinese PLA General Hospital,Beijing 100039,China)
出处
《传染病信息》
2022年第6期566-569,共4页
Infectious Disease Information
关键词
卟啉病
肝损害
临床特点
病例报道
代谢性疾病
治疗
转归
基因检测
porphyria
liver damage
clinical characteristic
case report
metabolic disease
treatment
turn over
gene detection
