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变异性卟啉病

Authors
Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD
Translators
邵英起, 副主任医师

引言

变异性卟啉病(variegate porphyria, VP)是一种卟啉代谢的常染色体显性遗传疾病，由线粒体酶原卟啉原氧化酶(protoporphyrinogen oxidase, PPOX)活性缺乏所致，PPOX是血红素生物合成途径中的第7种酶(图 1)。该疾病被称为“变异性”，是因为它可引起急性神经系统表现(如其他急性肝性卟啉病一样)、皮肤日光暴露区域的慢性水疱性病损(如大多数皮肤卟啉病一样)，或同时引起这两种表现[1-4]。

VP亦称为多样性卟啉病、南非遗传性卟啉病、混合型卟啉病[该过时术语也用于指遗传性粪卟啉病(hereditary coproporphyria, HCP)]、原粪卟啉症以及遗传性迟发性皮肤卟啉病(porphyria cutanea tarda, PCT)(可能包括部分家族性PCT病例)[1,3]。英格兰国王乔治Ⅲ世曾出现的非特异性症状(包括精神症状、腹痛和深色尿)被归因于该病(该推测根据不充分)，故此病也被称为“皇族病”[5,6]。

其他卟啉病将在UpToDate别处讨论。卟啉病概述也见别处。 (参见“Porphyrias: An overview”)

历史、患病率和流行病学

VP可能于1937年被首次描述[7]。在南非进行的广泛家系研究显著促进了我们对该病的认识，且确实推进了人类遗传学进展[8]。已有证据表明，该疾病是由一名荷兰男性或女性于1688年在南非结婚而将其带入。VP在荷兰后裔南非人中的患病率较高，因为该人群仍相当孤立且几十年间大量扩张[8-11]。这现在是遗传漂变或奠基者效应的一个众所周知的例子，且可能在南非中有多达30,000名个体携带有PPOX基因R59W突变[12]。

VP遍布于全球，但是因为许多PPOX突变携带者仍无症状，所以其患病率目前并不准确得知。在大多数国家，对VP的认识低于对急性间歇性卟啉病(acute intermittent porphyria, AIP)的认识[4,13]，然而在芬兰和中国台湾，VP的患病率可能与AIP相当[14,15]。据估计，一般而言，芬兰该病的患病率为1.3/100,000[14]，欧洲的患病率为0.3/100,000[16,17]。

                           

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Literature review current through: 2017-07 . | This topic last updated: 2016-09-12.
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