血卟啉病的研究进展  

Research progress of hematoporphyria

作　　者：刘建全 曹奎杰[2] 

机构地区：[1]长江航运总医院,武汉430000 [2]华中科技大学同济医学院附属协和医院输血科

出　　处：《临床血液学杂志（输血与检验）》2015年第6期1103-1106,共4页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

摘　　要：血卟啉病（Porphyrias）是因血红素合成路径中有关酶的缺乏导致卟啉类化合物代谢紊乱而发生的疾病,临床上主要表现是腹痛、神经精神症状及光感性皮肤损害,血卟啉病是一种罕见病,有资料统计欧洲国家每年歇性卟啉病（AIP）新发病例比例约为0.13/百万人^（[1]）,本综述将阐述临床上常见的卟啉病如AIP、迟发皮肤性卟啉病（PCI）、红细胞生成性卟啉病等的发病机制、临床表现、诊断、治疗及预后等相关研究进展。Hematoporphyrias are a group of metabolic disorders of the haem biosynthesis pathway that the abnormal function of several separate enzymatic steps lead to specific accumulation of haem precursors.The typical clinical symptoms present acute neurovisceral symptoms,photosensitivity skin lesions and abdominal symptoms.Hematoporphyrias are still underdiagnosed and if clinical presentation especially dark red or black urine are suspected,specific treatments should be applied as soon as possible.In this review,we describe pathogenesis,salient clinical performance and main measures of the most common clinical types of hematoporphyrias.

关 键 词：血卟啉病 卟啉类化合物 5-氨基乙酰丙酸 卟胆原 血红素 

分 类 号：R555[医药卫生—血液循环系统疾病]