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迟发性皮肤卟啉症组:它们在血红素生物合成酶缺陷中的作用

[The porphyria cutanea tarda group: their role among the enzyme defects of heme biosynthesis].

作者信息

Adrien A, Guillet G

出版信息

Sem Hop. 1984 Apr 12;60(16):1148-52.

PMID:6326308
Abstract

Porphyria cutanea tarda (PCT) is the most common porphyria. In contrast to the other porphyrias, which are undisputably hereditary, PCT was long considered to be acquired. However, the recent demonstration of a defect in uroporphyrinogen decarboxylase suggests that PCT is supported by a genetic factor. Though the hereditary or acquired nature of the enzymatic defect is still under debate, it seems that the disease has a polygenic origin involving an impairment of iron metabolism and a specific genetic background.

摘要

迟发性皮肤卟啉症(PCT)是最常见的卟啉症。与其他卟啉症不同,其他卟啉症无疑是遗传性的,而PCT长期以来被认为是后天获得性的。然而,最近尿卟啉原脱羧酶缺陷的发现表明,PCT存在遗传因素。尽管酶缺陷的遗传或后天性质仍在争论中,但该病似乎具有多基因起源,涉及铁代谢受损和特定的遗传背景。

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