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