Bonkovsky H L, Barnard G F
Division of Digestive Disease and Nutrition, University of Massachusetts Medical Center, Worcester, USA.
Semin Liver Dis. 1998;18(1):57-65. doi: 10.1055/s-2007-1007141.
For cost-effective diagnosis of porphyric syndromes, a logical stepwise approach is best. If neurovisceral features suggest an acute porphyric syndrome, a rapid screening test for urinary porphobilinogen should be performed. If clinical features suggest a cutaneous porphyria, then for solar urticaria and acute photosensitivity (suggesting protoporphyria) screening tests for increased erythrocytic porphyrins should be done; for vesiculobullous formation (suggesting porphyria cutanea tarda, hereditary coproporphyria, or variegate porphyria) a screening test for urinary porphyrins should be done. Positive screening tests should be confirmed with targeted quantitative testing. Enzymatic assays and DNA-based testing are not usually needed for rapid diagnosis or management of symptomatic subjects, but they are useful for kindred evaluation and genetic counseling.
为了实现卟啉症综合征的经济高效诊断，最佳方法是采用合理的逐步诊断法。如果神经内脏特征提示急性卟啉症综合征，应进行尿卟胆原快速筛查试验。如果临床特征提示皮肤卟啉症，那么对于日光性荨麻疹和急性光敏感（提示原卟啉症），应进行红细胞卟啉增加的筛查试验；对于水疱大疱形成（提示迟发性皮肤卟啉症、遗传性粪卟啉症或杂合性卟啉症），应进行尿卟啉筛查试验。筛查试验呈阳性的结果应以针对性定量检测进行确认。酶分析和基于DNA的检测通常并非有症状患者快速诊断或治疗所必需，但它们对家族评估和遗传咨询有用。
