Erythropoietic protoporphyria. A clinical and genetic study.
Erythropoietic protoporphyria. A clinical and genetic study.
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红细胞生成性原卟啉症。
DOI：
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发表时间：
1970
期刊：
影响因子：
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通讯作者：
V. McKusick
中科院分区：
文献类型：
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作者：
W. Reed;K. Wuepper;J. Epstein;A. Redeker;R. Simonson;V. McKusick
对九个家庭进行了遗传和临床研究。有 16 名临床受影响者和 43 名携带者。在我们的研究和文献中注意到男性占主导地位。两个家族表现出这种特征从携带者到受影响的个体再到携带者的几代遗传。由于粪便和红细胞原卟啉水平通常正常，因此通过增加的荧光红细胞检测到携带者。红细胞原卟啉对于光敏性可能并不重要，尽管来自肝脏的原卟啉很可能很重要。该疾病应称为红肝原卟啉症，以强调完全的代谢缺陷。该疾病以常染色体显性遗传方式传播，有许多携带者，但很少有临床相关个体。
A genetic and clinical study was conducted on nine families. There were 16 clinically affected individuals and 43 carriers. A predominance of males in our study and from the literature was noted. Two families showed transmission of the trait from a carrier to an affected individual to a carrier through several generations. Carriers were detected by increased fluorescing erythrocytes because fecal and erythrocyte protoporphyrin levels are often normal. Erythrocytic protoporphyrins are probably not important for photosensitivity, though protoporphyrins from the liver may well be. The disorder should be called erythrohepatic protoporphyria in order to emphasize the complete metabolic defect. The disorder is transmitted as an autosomal dominant with many carriers and few clinically involved individuals.