[一个瑞士家族中的遗传性软骨钙质沉着症]
[Hereditary chondrocalcinosis in a Swiss family].
作者信息
Gerster J C, Schmied P A
出版信息
Schweiz Med Wochenschr. 1987 Mar 14;117(11):402-5.
PMID:3576151
Abstract
A Swiss family with hereditary articular chondrocalcinosis is described. Chondrocalcinosis was found on x-rays of five cases in two generations. In four there were recurrent attacks of pseudogout; in all observations the first rheumatic symptoms started early in the fourth decade. There was no history of consanguinity and the mode of inheritance was autosomal dominant, in agreement with most of the other familial pedigrees reported in the literature.
摘要
本文描述了一个患有遗传性关节软骨钙质沉着症的瑞士家族。在两代人的五例病例的X射线检查中发现了软骨钙质沉着症。其中四例有复发性假性痛风发作；在所有观察病例中，首次出现风湿症状均始于四十岁早期。家族中无近亲结婚史，遗传方式为常染色体显性遗传，这与文献中报道的大多数其他家族谱系一致。
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