Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda.
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda.
复制标题
HLA 相关血色素沉着症的杂合性可能是与散发性迟发性皮肤卟啉症相关的肝铁质沉着症的原因。
DOI：
10.1016/s0016-5085(85)80084-6
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发表时间：
1985
期刊：
影响因子：
29.4
通讯作者：
Skolnick,MH
中科院分区：
文献类型：
--
作者：
Kushner,JP;Edwards,CQ;Dadone,MM;Skolnick,MH
肝尿卟啉原脱羧酶的活性低于正常水平是导致散发性和家族性迟发性皮肤卟啉病中卟啉生物合成紊乱的原因，但在没有肝铁质沉着症的情况下，这种酶缺陷在临床上并不表达。本家系研究支持HLA连锁遗传性血色素沉着症的单个等位基因与散发性迟发性皮肤卟啉症的肝铁质沉着有关的假说。散发性迟发性皮肤卟啉症的双位点因果关系模型可以解释观察到的显性病例的发病率和一个家系内多个受影响个体的罕见性。
Subnormal activity of hepatic uroporphyrinogen decarboxylase is responsible for the derangement of porphyrin biosynthesis in both sporadic and familial porphyria cutanea tarda, but the enzymatic defect is not clinically expressed in the absence of hepatic siderosis. The pedigree study described here offers support for the hypothesis that a single allele for HLA-linked hereditary hemochromatosis is responsible for the hepatic siderosis in sporadic porphyria cutanea tarda. A two-locus causation model for sporadic porphyria cutanea tarda might explain both the observed incidence of overt cases and the rarity of multiple affected individuals within a pedigree.