[一名4岁尿卟啉原脱羧酶缺乏儿童的迟发性皮肤卟啉症]
[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency].
作者信息
Cotton J B, Abeille A, Jeune R, Ladreyt-Ponchon J P, Grenier J L
出版信息
Pediatrie. 1986 Dec;41(8):617-27.
PMID:3575073
Abstract
A 4 years old girl presents a typical case of patent form of cutaneous late porphyria with a reduced activity of the erythrocyte, uroporphyrinogen decarboxylase (UROD) genetically transmitted over 3 generations; a multifactor inheritance (HLA A3, a normal phenotype of alpha 1 antitrypsin, exogenous toxins, or viral infections) is discussed.
摘要
一名4岁女孩呈现出典型的迟发性皮肤卟啉病显性遗传病例，其红细胞尿卟啉原脱羧酶（UROD）活性降低，该病症已在三代人中遗传；文中还讨论了多因素遗传（HLA A3、α1抗胰蛋白酶正常表型、外源性毒素或病毒感染）。
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