本文選題：先天性腎上腺皮質(zhì)增生癥 + -羥化酶缺乏　； 參考：《中國(guó)婦產(chǎn)科臨床雜志》2015年05期

【摘要】：先天性腎上腺皮質(zhì)增生癥(CAH)是皮質(zhì)醇合成酶基因缺陷導(dǎo)致腎上腺皮質(zhì)激素缺乏、雄激素過(guò)多的一組單基因遺傳病。CAH合并妊娠屬高危妊娠,基因型與臨床表型呈現(xiàn)部分相關(guān)性,其基因型多樣性決定了產(chǎn)前診斷方法需要遵循個(gè)體化原則;基于早期產(chǎn)前診斷基礎(chǔ)上的合理產(chǎn)前治療,可以減少母胎并發(fā)癥,降低對(duì)子代的影響,優(yōu)于僅始于新生兒期的篩查和治療,而產(chǎn)前無(wú)指征的糖皮質(zhì)激素應(yīng)用,又有可能帶來(lái)新的母胎并發(fā)癥風(fēng)險(xiǎn)。本文針對(duì)CAH不同基因突變型總結(jié)國(guó)內(nèi)外成功應(yīng)用的產(chǎn)前診斷方法及產(chǎn)前治療的利弊,為21-OHD合并妊娠患者個(gè)體化的孕期管理提供重要參考。
[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.
【作者單位】： 北京大學(xué)第三醫(yī)院產(chǎn)科;河北省石家莊市第四醫(yī)院產(chǎn)科;
【分類(lèi)號(hào)】：R714.256

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本文編號(hào)：2013048