Nordmann Y, Puy H, Deybach J C
Centre français des porphyries, hôpital Louis-Mourier, Colombes, France.
Rev Med Interne. 1999 Apr;20(4):333-40. doi: 10.1016/s0248-8663(99)83073-2.
This review is aimed at presenting classification and diagnosis criteria of hepatic porphyrias and at proposing guidelines for diagnosis and management of these diseases.
Porphyrias are inherited disorders: each type of porphyria is the result of a specific decrease in the activity of one of the enzymes of heme biosynthesis. Porphyrias are presently classified as erythropoietic or hepatic, depending on the primary organ in which excess production of porphyrins or precursors takes place. From 1970 to 1998, there have been important advances in the understanding of these diseases: specific enzyme deficiencies have been demonstrated, and genes have been isolated and located. These advances have been followed rapidly by identification of mutations.
Treatment of acute attacks by hematin completely changed the disease prognosis. Relationships between porphyria cutanea tarda and hepatitis C virus or hemochromatosis have also been clarified. However, several important issues are still not solved: for instance, pathogenesis of neuronal dysfunction that produces the acute attacks is poorly understood. Differences related to susceptibility to develop acute attacks are not known.
本综述旨在介绍肝性卟啉病的分类和诊断标准，并提出这些疾病的诊断和管理指南。
卟啉病是遗传性疾病：每种类型的卟啉病都是血红素生物合成中一种特定酶活性降低的结果。根据卟啉或前体过量产生的主要器官，卟啉病目前分为红细胞生成性或肝性。从1970年到1998年，对这些疾病的认识有了重要进展：已证实了特定的酶缺乏，并且分离和定位了相关基因。这些进展之后很快就鉴定出了突变。
用血红素治疗急性发作彻底改变了疾病的预后。迟发性皮肤卟啉病与丙型肝炎病毒或血色素沉着症之间的关系也已阐明。然而，几个重要问题仍未解决：例如，导致急性发作的神经元功能障碍的发病机制尚不清楚。与发生急性发作易感性相关的差异尚不清楚。
