Department of Dermatology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):593-605. doi: 10.1016/j.bpg.2010.08.010.
The porphyrias are predominantly inherited metabolic disorders, which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis. Historically, they have been classified into hepatic and erythropoietic forms, based on the primary site of expression of the prevailing dysfunctional enzyme. From a clinical point of view, however, it is more convenient to subdivide them into acute and non-acute porphyrias, thereby primarily considering the potential occurrence of life-threatening acute neurovisceral attacks. Unrecognised or untreated, such an acute porphyric attack is associated with a significant mortality of up to 10%. The acute hepatic porphyrias comprise acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase deficiency porphyria. Making a precise diagnosis may be difficult because the different types of porphyrias may show overlapping clinical and biochemical characteristics. To date, the therapeutic possibilities are limited and mainly symptomatic. In this overview we report on what is currently known about pathogenesis, clinic, diagnostics, and therapy of the acute hepatic porphyrias. We further point out actual and future challenges in the management of these diseases.
卟啉病主要是遗传性代谢紊乱，是由于血红素生物合成途径中某一特定酶的缺乏引起的。历史上，根据主要表达的功能失调酶的类型，它们被分为肝性和红细胞生成性卟啉病。然而，从临床角度来看，将它们进一步细分为急性和非急性卟啉病更为方便，主要考虑到危及生命的急性神经内脏发作的潜在发生。如果不被识别或不治疗，这种急性卟啉病发作与高达 10%的显著死亡率相关。急性肝性卟啉病包括急性间歇性卟啉病、变异性卟啉病、遗传性粪卟啉病和 δ-氨基酮戊酸脱水酶缺乏性卟啉病。由于不同类型的卟啉病可能表现出重叠的临床和生化特征，因此做出准确的诊断可能具有挑战性。迄今为止，治疗的可能性有限，主要是对症治疗。在这篇综述中，我们报告了目前对急性肝性卟啉病的发病机制、临床、诊断和治疗的了解。我们进一步指出了这些疾病管理中的当前和未来的挑战。
