Suppr超能文献

家族性特发性高钙尿症。

Familial idiopathic hypercalciuria.

作者信息

Coe F L, Parks J H, Moore E S

出版信息

N Engl J Med. 1979 Feb 15;300(7):337-40. doi: 10.1056/NEJM197902153000703.

Abstract

The frequency of hypercalciuria was determined in the families of nine hypercalciuric patients with idiopathic hypercaliuria who formed recurrent calcium oxalate renal stones. Idiopathic hypercalciuria occurred in 26 of 73 relatives, in three consecutive generations of two families and in two successive generations of four other families. Multiple siblings or children of the probands were affected in three families. Nineteen of 44 first-degree relatives (43 per cent) had idiopathic hypercalciuria, as compared to seven of 29 (29 per cent) other relatives; there was no relation to age or sex. Renal stones were formed by 19 of the 44 first-degree relatives but by none of the others; nine of the 19 were women. We conclude that there is a familial form of hypercalciuria, which appears to be transmitted as an autosomal dominant trait. Stone disease is frequent in first-degree relatives, and affects both sexes equally.

摘要

对9名特发性高钙尿症患者的家族进行了高钙尿症发生率的测定,这些患者患有复发性草酸钙肾结石。73名亲属中有26人患特发性高钙尿症,在两个家族的三代人中以及另外四个家族的两代人中出现。先证者的多个兄弟姐妹或子女在三个家族中受到影响。44名一级亲属中有19人(43%)患特发性高钙尿症,而另外29名亲属中有7人(29%)患病;与年龄或性别无关。44名一级亲属中有19人形成肾结石,而其他亲属无人形成;19名患者中有9名是女性。我们得出结论,存在一种家族性高钙尿症形式,似乎作为常染色体显性特征遗传。结石病在一级亲属中很常见,且男女发病率相同。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验