Martásek P
Department of Biochemistry, University of Texas Health Science Center, San Antonio 78284-7760, USA.
Semin Liver Dis. 1998;18(1):25-32. doi: 10.1055/s-2007-1007137.
Hereditary coproporphyria (HC) is a rare acute hepatic porphyria. Attacks may be precipitated by certain drugs, alcohol, infections, or low caloric intake. HC is caused by defects in the enzyme coproporphyrinogen III oxidase (copro-ox) which converts coproporphyrinogen III (coprogen) to protoporphyrinogen IX (protogen). Coprogen is made mainly in the liver and is excreted predominantly in the feces. The dramatic increase in coproporphyrin III (copro) excretion (10-200 times compared with the control value) with intensive red fluorescence under UV light is a specific and easily detectable marker for diagnosis of acute attacks of HC. HC is inherited as an autosomally dominant genetic defect. The cDNA and gene encoding copro-ox have been isolated recently and mutations have been identified, providing critical information concerning molecular heterogeneity and the potential for molecular diagnosis. In this review, we describe 10 mutations in the copro-ox gene which are spread along six exons. It is postulated that DNA analysis of gene carriers and the use of heme arginate for specific treatment will improve the care of HC patients dramatically.
遗传性粪卟啉病（HC）是一种罕见的急性肝卟啉病。某些药物、酒精、感染或低热量摄入可能引发发作。HC是由粪卟啉原III氧化酶（copro-ox）缺陷引起的，该酶将粪卟啉原III（coprogen）转化为原卟啉原IX（protogen）。Coprogen主要在肝脏中产生，主要通过粪便排泄。在紫外线下强烈的红色荧光下，粪卟啉III（copro）排泄量急剧增加（与对照值相比增加10 - 200倍）是诊断HC急性发作的一种特异性且易于检测的标志物。HC作为常染色体显性遗传缺陷遗传。最近已分离出编码copro-ox的cDNA和基因，并鉴定出了突变，这为分子异质性和分子诊断潜力提供了关键信息。在这篇综述中，我们描述了copro-ox基因中的10个突变，这些突变分布在六个外显子上。据推测，对基因携带者进行DNA分析以及使用精氨酸血红素进行特异性治疗将极大地改善HC患者的护理。
