小儿21羟化酶缺陷症31例临床分析  

The clinical analysis of 31 cases of 21-hydroxylase deficiency in children

作　　者：周慧 甄诚 田凤艳[1] Zhou Hui;Zhen Cheng;Tian Fengyan(Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,河南郑州450052

出　　处：《河南医学研究》2018年第3期391-394,共4页Henan Medical Research

基　　金：国家自然科学基金资助项目(81200883)

摘　　要：目的分析小儿21羟化酶缺陷症(21-OHD)的临床特点,提高对该病的认识及诊治水平。方法回顾性分析2010年9月至2016年2月郑州大学第一附属医院收治的31例21羟化酶缺陷症患儿的临床资料,总结其临床特点。结果失盐型21例,单纯男性化型10例;皮肤黏膜色素沉着者23例;伴低钠、高钾者21例,部分出现酸中毒;10例单纯男性化患儿ACTH、睾酮、17-羟孕酮均升高,皮质醇正常或降低;骨龄提前者7例;肾上腺CT显示增粗者17例(13例提示双侧肾上腺增生,4例提示单侧肾上腺增生);2例性别判断错误,染色体核型鉴定为女性;7例接受CYP21A2基因检测(3例纯合突变,4例杂合突变);激素治疗后失盐型患儿血钠水平高于治疗前[(140.38±3.85)mmol/L比(119.13±8.85)mmol/L],血钾水平低于治疗前[(4.43±0.62)mmol/L比(6.75±0.89)mmol/L],差异有统计学意义(P均<0.05)。结论 21-OHD的诊断需综合临床表现、生化指标、肾上腺CT及基因检测结果,临床应提倡尽早进行新生儿筛查,早期诊断及合理治疗有利于预后。Objective To summarize and analyze the clinical features of 21-hydroxylase deficiency in children and to improve the understanding and diagnosis and treatment of this disease.Methods The clinical data of thirty one patients with 21-hydroxylase deficiency admitted from the First Affiliated Hospital of Zhengzhou University from September of 2010 to February of 2016 were analyzed retrospectively to summarize the clinical features.Results Twenty one cases of 21-hydroxylase deficiency were salt losing form,of which ten cases were simple masculine type;twenty three cases appeared dark color ofskin and mucosa;twenty one cases with low sodium and high potassium,part of them appeared to acidosis.The levels of ACTH,testosterone and 17-hydroxyprogesteronele were all high in ten cases of simple masculine type,while cortisol were normal or reduced,seven cases were in advance of the skeletal age,adrenal CT of seventeen cases showed enlargement(thirteen cases of bilateral adrenal hyper-plasia,four cases of prompt unilateral adrenal hyperplasia),the sex of two cases were misclassified and identified as female by chromosome karyotype test,seven cases were made CYP21A2 genetic testing(four cases of homozygous mutations,three cases of hybrid mutation).The level of serum sodium in children with salt-losing after hormone therapy was higher than that before treatment[(140.38±3.85)mmol/L versus(119.13±8.85)mmol/L],and the level of serum potassium was lower than that before treatment[(4.43±0.62)mmol/L versus(6.75±0.89)mmol/L],the difference was statistically significant(P<0.05).Conclusion The diagnosis of 21-hydroxylase deficiency needs comprehensive clinical manifestations,biochemical indicators,adrenal CT and genetic test results,clinical should advocate as soon as possible neonatal screening,early diagnosis and reasonable treatment is conducive to the prognosis.

关 键 词：21-羟化酶缺陷症 新生儿筛查 基因检测 

分 类 号：R722.19[医药卫生—儿科]