Lecha M, Herrero C, Ozalla D
Department of Dermatology, Hospital Clinic, University of Barcelona, Barcelona, Spain.
Dermatol Ther. 2003;16(1):65-72. doi: 10.1046/j.1529-8019.2003.01610.x.
Porphyrias are a peculiar group of diseases resulting from hereditary or acquired partial deficiencies in seven of the eight enzymes in the biosynthetic pathway of heme. Biosynthesis of heme takes place in the erythropoietic system or in the hepatic tissue. Depending on the main location of the enzyme defect, porphyrias can be classified as erythropoietic or hepatic. There are seven basic clinical forms of porphyria related to a deficiency of each of the involved enzymes. Clinical manifestations in porphyria may be neurovisceral or cutaneous. Patients may present with acute attacks (acute porphyrias), cutaneous lesions (cutaneous porphyrias), or both (mixed porphyrias). Study of patients supected of having porphyria should include several steps: 1) clinical evaluation, 2) biochemical study, which enables us to classify the patient to a specific form of porphyria, followed if possible by 3) enzymatic assay(s), and 4) genetic studies to confirm an enzyme deficiency and its level and the causal genetic mutation. Unfortunately no curative treatment is available for any of the porphyrias. However, symptomatic treatments are available and are discussed in this article.
卟啉病是一组特殊的疾病，由血红素生物合成途径中八种酶中的七种遗传性或获得性部分缺陷引起。血红素的生物合成发生在造血系统或肝组织中。根据酶缺陷的主要部位，卟啉病可分为红细胞生成性或肝性。与每种相关酶缺乏有关的卟啉病有七种基本临床类型。卟啉病的临床表现可能是神经内脏性或皮肤性的。患者可能出现急性发作（急性卟啉病）、皮肤病变（皮肤卟啉病）或两者皆有（混合型卟啉病）。对疑似患有卟啉病的患者进行研究应包括几个步骤：1）临床评估；2）生化研究，这使我们能够将患者分类到特定类型的卟啉病，如有可能，随后进行3）酶测定，以及4）基因研究，以确认酶缺乏及其程度和致病基因突变。不幸的是，目前尚无针对任何一种卟啉病的治愈性治疗方法。然而，有对症治疗方法，本文将对此进行讨论。
