早产儿先天性肾上腺皮质增生症1例并文献复习  

One case of premature infant with congenital adrenal hyperplasia and literature review

作　　者：郭育屏 GUO Yuping(Department of Neonatology,Shaoyifu Hospital Affiliated to Zhejiang University School of Medicine,Zhejiang Province,Hangzhou 310000,China)

机构地区：[1]浙江大学医学院附属邵逸夫医院新生儿科,浙江杭州310000

出　　处：《妇儿健康导刊》2025年第4期76-81,共6页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：先天性肾上腺皮质增生症(CAH)是临床较为少见的常染色体隐性遗传疾病,在我国发生率低于万分之一,但其危害极大。CAH临床分为21-羟化酶缺陷型、3β-羟类同醇脱氢酶缺陷型、11β-羟化酶缺陷型、17α-羟化酶缺陷型等多种类型,其中以21-羟化酶缺陷型最为多见。CAH的临床诊断依赖基因诊断、临床特征、生化指标等,但由于引起其发病的CYP21A2基因突变具有多样性,基因检测结果可能存在阴性,临床需关注17α-羟孕酮水平和临床特征,以做出明确诊断,以免影响诊疗。CAH治疗以对症治疗、激素替代疗法为主,随着生物医学技术的发展,靶向药物、基因技术也逐渐应用于CAH治疗,但尚处于研究中,并未得到广泛应用。关于CAH的预后,辅助生殖技术给有生育要求的患者带来新的希望,在改善预后方面具有较大前景。本文报道1例CAH早产儿,经临床表现、生化特点诊断为CAH,经氢化可的松治疗、对症治疗,患儿体重增长稳定,电解质基本正常,17α-羟孕酮水平降至目标控制范围,治疗效果良好,为临床早产儿CAH的诊疗提供参考资料。Congenital adrenal hyperplasia(CAH)is a relatively rare autosomal recessive genetic disease,the incidence of which is less than one in ten thousand in China,but it is extremely harmful.CAH is clinically classified into various types such as 21-hydroxylase deficiency,3β-hydroxyisoalcohol dehydrogenase deficiency,11β-hydroxylase deficiency,and 17α-hydroxylase deficiency,with 21-hydroxylase deficiency being the most common type.The clinical diagnosis of CAH depends on gene diagnosis,clinical characteristics,and biochemical indicators,etc.However,due to the diversity of CYP21A2 gene mutations that cause the pathogenesis of CAH,the gene test results may be negative.Clinical attention should be paid to the level and clinical characteristics of 17α-hydroxyprogesterone in order to make a clear diagnosis and avoid affecting the diagnosis and treatment.The treatment of CAH is mainly symptomatic treatment and hormone replacement therapy.With the development of biomedical technology,targeted drugs and gene technology are gradually applied to the treatment of CAH,but they are still in research and have not been widely used.As for the prognosis of CAH,assisted reproductive technology brings new hope to patients with fertility requirements,and has great prospects in improving the prognosis.This paper reported a case of premature infant with CAH,whom was diagnosed as CAH by clinical manifestations and biochemical characteristics.After hydrocortisone treatment and symptomatic treatment,the weight of the child increased steadily,the electrolyte was basically normal,and the 17α-hydroxyprogesterone level fell to the target control range.The treatment effect was good,which provided reference for the diagnosis and treatment of clinical premature infants with CAH.

关 键 词：先天性肾上腺皮质增生症 糖皮质激素 氢化可的松 

分 类 号：R586[医药卫生—内分泌]