Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Via F. Sforza 35, 20122, Milan, Italy.
Intern Emerg Med. 2010 Oct;5 Suppl 1:S73-80. doi: 10.1007/s11739-010-0449-7.
Porphyrias are a group of eight rare inherited metabolic disorders of heme biosynthesis pathway. Porphyrias are still underdiagnosed, although examinations of urine and plasma are first-line tests for detecting excess of porphyrins or heme precursors in suspected patients. Diagnosis, particularly for the acute forms, is essential to avoid precipitating factors and the use of triggering drugs. Mutation screening of family members is recommended to identify presymptomatic carriers and to prevent acute attacks. The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly.
卟啉症是一组八种罕见的遗传性血红素生物合成途径代谢紊乱。尽管对疑似患者进行尿液和血浆检查是检测卟啉或血红素前体过量的一线检查，但卟啉症的诊断仍然存在漏诊，特别是对于急性卟啉症。诊断对于避免诱发因素和使用触发药物至关重要。建议对家庭成员进行突变筛查，以识别无症状携带者并预防急性发作。治疗方法应根据卟啉症的具体形式而定，应迅速开始治疗。
