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。1发病病因及病理机制依据血红素前体物质(ALA、PBG以及卟啉类 Porphyrias (Porphyrias) is a disease that occurs due to the disorder of metabolism of porphyrin due to lack of enzymes in the heme biosynthesis pathway. The main clinical manifestations are abdominal pain, neuropsychiatric symptoms, phototoxic skin lesions, hematoporphyrinosis Is a rare disease, there are statistics of European countries every year the number of new cases of intermittent porphyria (AIP) is about 0.13 / million people ~ ([1]), this review will describe the clinical common porphyria AIP, delayed skin porphyria (PCI), erythropoietic porphyria and other pathogenesis, clinical manifestations, diagnosis, treatment and prognosis related research progress. 1 pathogenesis and pathological mechanism based on heme precursors (ALA, PBG and porphyrin