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[洛氏综合征(作者译)]

[Lowe's syndrome (author's transl)].

作者信息

Jezegabel C, Duprey G, Zafimehy E

出版信息

Arch Ophtalmol (Paris). 1977;37(2):101-12.

PMID:142465
Abstract

Concerning the clinical study, the oculo-cerebro-renal syndroms are well drawn and we nearly could say there is no syndrome of Lowe without a cataract. This conviction puts aside some oculo-cerebro-renal syndroms occured to female and easily called "Lowe's Syndrom". The glaucoma which exists in half of the cases, is scarcely a mechanical type, sometimes it is an usual congenital type with membrane of Barkan, but the more frequently, it is secondary to an alteration of all constitutive elements of the anterior uvea and of the camerular angle. Concerning inheritance, the absence of female cases among the PF observations confirm the recessive transmission attached to the sex, which is, in fact, definively established. Though the search of hererozygote females after an ophtalmological or biochimical observation has no absolute value, it anyway adds some very precious genetic requirements. Concerning the etio-pathogenic study, as we tried to show, the authors agree in simultaneous and contemporary appearance, between the 4th and the 6th month of the intra-uterine life of oculo-cerebro-renal troubles of Lowe's Syndrom and in the existence of a common factor, probably a genetic one. Anyway, we still have to precise the nature of the gene and the inter relations existing between the three injures.

摘要

关于这项临床研究,眼脑肾综合征的描述很清晰,我们几乎可以说没有白内障就不存在洛氏综合征。这种观点排除了一些发生在女性身上且容易被称为“洛氏综合征”的眼脑肾综合征。半数病例存在的青光眼,几乎不是机械性类型,有时是伴有巴尔坎膜的常见先天性类型,但更常见的是继发于前葡萄膜和房角所有构成成分的改变。关于遗传,在PF观察中未发现女性病例,这证实了与性别相关的隐性遗传,事实上,这一点已最终确定。尽管在眼科或生化观察后寻找杂合子女性没有绝对价值,但无论如何它增加了一些非常宝贵的遗传学依据。关于病因学研究,正如我们试图表明的,作者们一致认为,在子宫内生活的第4至6个月期间,洛氏综合征的眼脑肾问题会同时且在同一时期出现,并且存在一个共同因素,可能是遗传因素。无论如何,我们仍需明确基因的性质以及三种损伤之间存在的相互关系。

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