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[结节性硬化症(布尔内维尔病)。1例产前诊断]

[Bourneville's tuberous sclerosis. Prenatal diagnosis of a case].

作者信息

Monnier J C, Tiberghien B, Vaksmann G, Vaksmann S, Churlet A, Patey-Savatier P, Lefebvre-Maunoury C, Vinatier D

机构信息

Service de Gynécologie-Obstétrique, C.H.U., Lille.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1988;17(4):495-9.

PMID:3062067
Abstract

The discovery of a tumour of the heart on fetal ultrasound is a rare event. 60% of heart tumours in the fetus are rhabdomyomas. 50% of rhabdomyomas are associated with Bourneville's tuberous sclerosis. The inherited element of the effect of the gene is variable but often severe (75% of patients die before the age of 25 and 60-80% are disabled). Tuberous sclerosis Bourneville is a multifocal pathological condition of which only the presence of rhabdomyomata in the heart make it possible to diagnose the condition antenatally. Monitoring the fetus consists of looking carefully for the complications that can occur and of planning the health care of the newborn including the need to consider surgical intervention at birth.

摘要

胎儿超声检查发现心脏肿瘤是罕见事件。胎儿心脏肿瘤中60%为横纹肌瘤。50%的横纹肌瘤与伯恩维尔结节性硬化症有关。该基因作用的遗传因素具有变异性,但通常很严重(75%的患者在25岁前死亡,60 - 80%有残疾)。伯恩维尔结节性硬化症是一种多灶性病理状况,只有心脏存在横纹肌瘤才有可能在产前诊断该病。对胎儿的监测包括仔细观察可能出现的并发症以及规划新生儿的医疗护理,包括考虑出生时进行手术干预的必要性。

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1
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[Bourneville's tuberous sclerosis].[布尔内维尔结节性硬化症]
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