McDonagh A F, Bissell D M
Division of Gastroenterology, University of California, San Francisco, USA.
Semin Liver Dis. 1998;18(1):3-15. doi: 10.1055/s-2007-1007135.
The porphyrias are diseases caused by defective biosynthesis of heme. Leavened by digressions on porphyria trivia, this article presents selected highlights from the last 15 years of research on the chemistry, diagnosis, and treatment of the porphyrias. Thanks largely to genetic analysis and new light shed on the magical chemistry of heme biosynthesis, this period has seen great advances in the understanding of porphyria. Sequence analyses of the genes for all of the enzymes required for heme biosynthesis have revealed the porphyrias as highly heterogeneous, with multiple mutations underlying each type. As a result of technical advances, clinical porphyrin analyses are easier and more detailed, but their misapplication to "multiple chemical sensitivity syndrome" or "intoxication porphyria" is unfortunate. The prospect of gene therapy shines ever brighter but is neither safe nor effective enough to be considered for porphyria. As practical spin-offs, porphyrins are in use increasingly for diagnosis and treatment of cancer and as herbicides and pesticides. Accounts of alleged porphyria in "Prominent People" in the popular press continue to appear, generating fanciful misconceptions, often at the expense of patients with these fascinating diseases.
卟啉病是由血红素生物合成缺陷引起的疾病。本文穿插了一些关于卟啉病琐事的题外话，介绍了过去15年里卟啉病在化学、诊断和治疗方面研究的一些亮点。很大程度上得益于基因分析以及对血红素生物合成神奇化学过程的新认识，这一时期在卟啉病的理解上取得了巨大进展。对血红素生物合成所需的所有酶的基因进行序列分析后发现，卟啉病具有高度异质性，每种类型都有多种突变。由于技术进步，临床卟啉分析变得更容易、更详细，但将其错误应用于“多重化学敏感性综合征”或“中毒性卟啉病”是不幸的。基因治疗的前景越来越光明，但对于卟啉病来说，既不够安全也不够有效，还不能考虑应用。作为实际的附带成果，卟啉越来越多地用于癌症的诊断和治疗以及用作除草剂和杀虫剂。大众媒体上关于“名人”患卟啉病的报道仍不断出现，引发了离奇的误解，而这些疾病的患者往往因此受到伤害。
