先天性肾上腺皮质增生症合并妊娠的孕期管理

发布时间：2018-06-13 06:23

本文选题：先天性肾上腺皮质增生症 + -羟化酶缺乏　；参考：《中国妇产科临床杂志》2015年05期

【摘要】：先天性肾上腺皮质增生症(CAH)是皮质醇合成酶基因缺陷导致肾上腺皮质激素缺乏、雄激素过多的一组单基因遗传病。CAH合并妊娠属高危妊娠,基因型与临床表型呈现部分相关性,其基因型多样性决定了产前诊断方法需要遵循个体化原则;基于早期产前诊断基础上的合理产前治疗,可以减少母胎并发症,降低对子代的影响,优于仅始于新生儿期的筛查和治疗,而产前无指征的糖皮质激素应用,又有可能带来新的母胎并发症风险。本文针对CAH不同基因突变型总结国内外成功应用的产前诊断方法及产前治疗的利弊,为21-OHD合并妊娠患者个体化的孕期管理提供重要参考。
[Abstract]:Congenital adrenocortical hyperplasia (CAH) is caused by the deficiency of cortisol synthase gene, and a group of monogene hereditary diseases of androgen, CAH combined with pregnancy, belongs to high risk pregnancy, and the genotype is partly correlated with clinical phenotype. The diversity of its genotypes determined that prenatal diagnosis methods should follow the principle of individualization. Reasonable antenatal treatment based on early prenatal diagnosis could reduce maternal and fetal complications and reduce the influence on offspring. It is superior to the screening and treatment that only begins at the neonatal stage, and the use of glucocorticoid without indication before delivery may bring about a new risk of maternal and fetal complications. This paper summarizes the successful prenatal diagnosis methods and the advantages and disadvantages of prenatal treatment for different mutation types of CAH gene at home and abroad, and provides an important reference for individualized pregnancy management of 21-OHD patients with pregnancy.
【作者单位】：北京大学第三医院产科;河北省石家庄市第四医院产科;
【分类号】：R714.256

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