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[卟啉病,特别强调遗传性]

[Porphyrin diseases with particular emphasis on hereditary].

作者信息

Knapp A

出版信息

Z Gesamte Inn Med. 1981 Jun 1;36(11):377-81.

PMID:7303763
Abstract

During the last 10 years our knowledge concerning the basis defect in porphyrias has increased so that a better genetic family advice. The following basis defects were found: 1. Uroporphyrinogen-III-cosynthetase in porphyria erythropoetica congenita, 2. haem-synthetase in protoporphyria erythropoetica, 3. uroporphyrinogen-1-synthetase in porphyria acuta intermittens, 4. uroporphyrinogen-carboxylase in porphyria cutanea tarda. According to this in porphyria cutanea tarda a genetic defect is supposed, which leads to the disease in connection with the environmental factors. On the basis of the biochemical findings a better understanding of the heredity is possible which is discussed in detail.

摘要

在过去的10年里,我们对卟啉症基本缺陷的认识有所增加,从而能够提供更好的遗传家族咨询。发现了以下基本缺陷:1. 先天性红细胞生成性卟啉症中的尿卟啉原-III-合酶;2. 红细胞生成性原卟啉症中的血红素合成酶;3. 急性间歇性卟啉症中的尿卟啉原-I-合成酶;4. 迟发性皮肤卟啉症中的尿卟啉原羧化酶。据此推测,迟发性皮肤卟啉症存在一种遗传缺陷,该缺陷与环境因素共同导致疾病。基于生化研究结果,可以更好地理解遗传情况,这将进行详细讨论。

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