卟啉症  

Porphyria

作　　者：刘元香 徐子刚[1] LIU Yuanxiang;XU Zigang(Department of Dermatology,Beijing Children’s Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院,北京100045

出　　处：《皮肤科学通报》2020年第1期66-72,共7页Dermatology Bulletin

摘　　要：卟啉症(porphyria)是卟啉和(或)卟啉前体在体内病理性积聚和排泄增多所致的一组代谢障碍性疾病。根据有无皮肤受累分类皮肤型和非皮肤型两大类,其中前者包括红细胞生成性原卟啉症、迟发性卟啉症、遗传性粪卟啉症、变异性卟啉症、先天性红细胞生成性卟啉症及肝性红细胞生成性卟啉症;后者包括急性间歇性卟啉症和δ-氨基酮戊酸脱水酶缺陷型卟啉症。而皮肤型卟啉症以红细胞生成性卟啉症和迟发性卟啉症多见。目前各型卟啉病的致病基因相对明确,基本为编码血红素合成途径相应酶的基因失去性功能突变所致。仅2008年新发现的X连锁的显性原卟啉症为酶获得性功能突变所致。各型卟啉病的治疗强调基础的避光防护。本文将对各型卟啉病的临床表现、诊断及鉴别诊断治疗等进行相关综述。Porphyria is a group of metabolic disorders caused by the accumulation and excretion of porphyrin and/or porphyrin precursors in vivo.According to the presence or absence of cutaneous symptoms,the porphyria can be classified into cutaneous and non-cutaneous forms.Cutaneous porphyria includes erythropoietic protoporphyria,porphyria cutanea tarda,hereditary coproporphyria,variegate porphyria,congenital erdythropomtic porphyria,HEP;non-cutaneous includes acute intermittent porphyria andδ-aminolevulinic acid dehydratase porphyria.However,EPP and PCT are two most common cutaneous porphyria.At present,the pathogenic genes of porphyria are basically clear,which are caused by the loss of function mutation of genes encoding the corresponding enzymes of heme synthesis pathway.X-linked dominant protoporphyria newly discovered in 2008 was caused by enzyme acquired functional mutation.This article reviews the clinical manifestations,diagnosis,differential diagnosis and treatment of porphyria.

关 键 词：卟啉症 皮肤 临床表现 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]