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膀胱外翻-尿道上裂复合畸形的遗传方式

The inheritance of the exstrophy-epispadias complex.

作者信息

Shapiro E, Lepor H, Jeffs R D

出版信息

J Urol. 1984 Aug;132(2):308-10. doi: 10.1016/s0022-5347(17)49605-4.

DOI:10.1016/s0022-5347(17)49605-4
PMID:6737583
Abstract

The inheritance pattern of the exstrophy-epispadias complex was investigated by a combined literature review and a survey of the personal experience of pediatric urologists in North and South America, and Europe. Bladder exstrophy recurred in only 9 of approximately 2,500 families (1 in 275) with bladder exstrophy or complete epispadias. The recurrence of the exstrophy-epispadias complex in offspring of parents with bladder exstrophy or complete epispadias has never been described previously. We identified 215 offspring produced by parents with bladder exstrophy or epispadias, and bladder exstrophy was inherited in 3 of the offspring (1 in 70 live births). The recurrence of bladder exstrophy in offspring of parents with the exstrophy-epispadias complex is greater than previously assumed.

摘要

通过综合文献综述以及对北美、南美和欧洲儿科泌尿科医生个人经验的调查,对膀胱外翻-尿道上裂综合征的遗传模式进行了研究。在大约2500个患有膀胱外翻或完全性尿道上裂的家庭中,仅有9个家庭(275个家庭中有1个)出现膀胱外翻复发情况。膀胱外翻或完全性尿道上裂患者后代中膀胱外翻-尿道上裂综合征的复发情况此前从未被描述过。我们确定了由膀胱外翻或尿道上裂患者所生育的215名后代,其中3名后代遗传了膀胱外翻(70例活产中有1例)。膀胱外翻-尿道上裂综合征患者后代中膀胱外翻的复发率高于此前的推测。

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