先天性腎上腺皮質(zhì)增生癥篩查的相關(guān)進(jìn)展

呂萌萌　朱宇皇　張躍峰　付光宇★

先天性腎上腺皮質(zhì)增生癥篩查的相關(guān)進(jìn)展

呂萌萌1朱宇皇2張躍峰2付光宇2★

［摘要］先天性腎上腺皮質(zhì)增生癥（congenital adrenal hyperplasia，CAH）是一種常染色體隱形遺傳疾病，其發(fā)病原因是由于在腎上腺合成皮質(zhì)醇途徑中所需酶的缺失，其中90%以上屬于21－羥化酶缺失。無論是什么性別，患者在酶缺失狀態(tài)下如果沒有及時(shí)診斷或治療，在出生后都會(huì)經(jīng)歷快速生長，或者性別模糊的臨床癥狀。如果出現(xiàn)幾種酶同時(shí)缺失的情況，更會(huì)造成新生兒失鹽，甚至死亡。本文將對(duì)CAH的新生兒篩查、產(chǎn)前診斷、非新生兒診療和分子診斷技術(shù)進(jìn)行討論，以便更加深入地了解CAH的特征，同時(shí)對(duì)其診斷方法有更全面的認(rèn)識(shí)。

［關(guān)鍵詞］先天性腎上腺皮質(zhì)增生癥；新生兒；篩查；分子診斷

作者單位：1．鄭州市第六人民醫(yī)院檢驗(yàn)科，河南，鄭州450015 2．鄭州安圖生物工程股份有限公司，河南，鄭州450016

The progress of screening for congenital adrenal hyperplasia

LV Mengmeng1, ZHU Yuhuang2, ZHANG Yuefeng2, FU Guangyu2★
(1.Department of Clinical Laboratory, the Sixth People’s Hospital of Zhengzhou City, Zhengzhou, Henan, China, 450015; 2. Zhengzhou Autobio Biological Engineering Co.Ltd, Zhengzhou, Henan, China, 450016)

［ABSTRACT］Congenital adrenal hyperplasia is a kind of autosomal recessive disorders which resulting from the deficiency of the enzymes required for cortisol synthesis. The most frequent is steroid 21-hydroxylase deficiency, which accounting for more than 90 percent of cases. Both males and females will undergo rapid growth or gender blur if they haven’t been diagnosed or treated in time. And in the case of several enzymes deficiency at the same time, the newborns will have to suffer from salt-loss or even death. The neonatal screening, prenatal diagnosis, non-infant diagnosis and molecular diagnostic techniques of CAH will be discussed in this paper for in-depth understanding about the characteristics and the diagnostic methods of CAH.

［KEY WORDS］Congenital adrenal hyperplasia(CAH); Newborns; Screening; Molecular diagnosis

先天性腎上腺皮質(zhì)增生癥（congenital adrenal hyperplasia，CAH）是因腎上腺皮質(zhì)激素合成途徑中酶的缺陷所引起的疾病，屬常染色體隱性遺傳病的一種，是最常見的隱性遺傳性疾病之一。常見的缺陷酶包括21-羥化酶、3-羥脫氫酶、17-羥化酶、11-羥化酶和皮質(zhì)酮甲基氧化酶等，其中21-羥化酶缺陷癥（21-hydroxylase deficiency，21-OHD）是CAH中最為多見的一種，約占90%～95%［1］。臨床上根據(jù)疾病的嚴(yán)重程度，將CAH分為經(jīng)典型和非經(jīng)典型，其中經(jīng)典型包括失鹽型和單純男性化型，非經(jīng)典型又可稱做遲發(fā)型（nonclassic 21-hydroxylase deficiency，NCCAH）。經(jīng)典型新生兒病例出生后即可發(fā)現(xiàn)性別模糊、外生殖器畸形，并出現(xiàn)失鹽和腎上腺皮質(zhì)功能不全的癥狀，如嘔吐、厭食、高血鉀、低血鈉、酸中毒及脫水等［2］，嚴(yán)重者可至死亡。……