A Study of Fabry’s Disease
A Study of Fabry’s Disease
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法布里氏病的研究
DOI：
10.1159/000253987
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发表时间：
1969
期刊：
影响因子：
--
通讯作者：
C. Rouiller
中科院分区：
文献类型：
--
作者：
A. Perrelet;W. Forssmann;A. Franceschetti;C. Rouiller
最后，Gruber（1940 a，B）在观察了两个家族连续两代表现出这种感情后，提出了轮叶角膜的名称。在第一个家庭[14]，两个姐妹篇，一个女儿和一个儿子的年轻人受到影响。在第二个家庭中，一个母亲、一个女儿和一个儿子表现出典型的螺旋状角膜病。最近，登登（Denden，1903，1904，1900）做了一个类似的观察（母亲、一个女儿和一个儿子受到影响），在他看来，这似乎证实了显性遗传。然而，由于没有观察到从父亲到儿子的直接传播，我们指出不排除性连锁传播。
Finally, Gruber (1940 a, b) proposed the name of cornea verticillata, after observing two families showing this affection in two consecutive generations. In the first family [14], two sisters, a daughter and a son of the younger one was affected. Therefore, it was reasonable to think of a dominant inheritance.In the second family, a mother, a daughter and a son showed the typical whorl-like corneal disease. More recently, Denden (1903, 1904, 1900) made an analogous observation (the mother, a daughter and a son affected), which, in his opinion, seemed to confirm the dominant inheritance. Nevertheless, since no direct transmission from father to son was observed, we pointed out that a sex-linked transmission was not to be excluded [11].