Kauppinen R, Timonen K, Mustajoki P
Third Department of Medicine, University of Helsinki, Finland.
Ann Med. 1994 Feb;26(1):31-8. doi: 10.3109/07853899409147324.
There are seven porphyrias which are caused by defective functions of the enzymes in the haem biosynthesis. Pathogenic mechanisms and symptoms differ greatly in individual porphyrias and, consequently, most of them require a specific therapy. Clinically, the three most important entities are acute porphyric attack, porphyria cutanea tarda and protoporphyria. For an acute porphyric attack the treatment of choice is administration of haem; the other measures are elimination of precipitating factors and symptomatic therapy for many associated symptoms. Porphyria cutanea tarda is controlled by removal of iron by phlebotomies or with low-dose chloroquine. Skin symptoms in protoporphyria can be alleviated with betacaroten but there is no effective procedure to normalize disturbed porphyrin metabolism; hepatic failure seen in some patients may need a liver transplantation. The only effective treatment in congenital erythropoietic porphyria is probably a bone marrow transplantation. No satisfactory treatment is available for very rare delta-aminolevulinic acid dehydrase deficiency porphyria.
有七种卟啉病是由血红素生物合成中酶的功能缺陷引起的。各种卟啉病的致病机制和症状差异很大，因此，大多数卟啉病都需要特定的治疗方法。临床上，三个最重要的类型是急性卟啉发作、迟发性皮肤卟啉病和原卟啉病。对于急性卟啉发作，首选的治疗方法是给予血红素；其他措施是消除诱发因素以及对许多相关症状进行对症治疗。迟发性皮肤卟啉病可通过放血或低剂量氯喹去除铁来控制。原卟啉病的皮肤症状可用β-胡萝卜素缓解，但目前尚无有效方法使紊乱的卟啉代谢恢复正常；一些患者出现的肝衰竭可能需要进行肝移植。先天性红细胞生成性卟啉病唯一有效的治疗方法可能是骨髓移植。对于非常罕见的δ-氨基-γ-酮戊酸脱水酶缺乏性卟啉病，尚无令人满意的治疗方法。
