先天性孤立性促肾上腺皮质激素缺乏症临床及遗传学特征  

Clinical and genetic characteristics of congenital isolated adrenocorticotropic hormone deficiency

作　　者：杜牧[1] 刘子勤[1] 宋福英[1] 钱坤 陈晓波[1] Du Mu;Liu Ziqin;Song Fuying;Qian Kun;Chen Xiaobo(Department of Endocrinology,Children′s Hospital,Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院内分泌科,北京100020

出　　处：《中华儿科杂志》2022年第7期706-709,共4页Chinese Journal of Pediatrics

基　　金：北京市卫生计生委首都卫生发展科研专项(2018-2-2101);北京市“培育计划”西医项目(PX2020055)。

摘　　要：目的探讨先天性孤立性促肾上腺皮质激素缺乏症的临床和遗传学特征。方法回顾性分析2019年1月至2021年3月首都儿科研究所附属儿童医院内分泌科诊治的5例先天性孤立性促肾上腺皮质激素缺乏症患儿的临床资料,对其一般情况、临床表现、实验室检查、基因检测结果、治疗及随访(截至2021年10月)等进行分析。结果5例患儿中女1例、男4例,就诊时年龄范围13月龄至6岁,均在婴儿期出现低血糖、抽搐,4例婴儿期有胆汁淤积。5例患儿血糖范围在0.79~2.20 mmol/L,促肾上腺皮质激素范围<1.00~4.17 ng/L,皮质醇范围0.2~3.8μg/L。全外显子测序发现3例患儿携带TBX19纯合变异,2例患儿为复合杂合变异,包含3种已报道变异和3种新变异。明确诊断后予以氢化可的松治疗,随访中患儿低血糖症状全部改善,4例患儿未再出现抽搐发作。结论新生儿期和婴儿期以低血糖、抽搐为表现伴有胆汁淤积的患儿,应注意考虑先天性孤立性促肾上腺皮质激素缺乏症,通过基因检测可明确诊断。Objective To investigate the clinical and genetic characteristics of congenital isolated adrenocorticotropic hormone(ACTH)deficiency.Methods The clinical and laboratory characteristics of 5 cases with congenital isolated ACTH deficiency diagnosed in the Department of Endocrinology of the Children′s Hospital,Capital Institute of Pediatrics from January 2019 to March 2021 were retrospectively analyzed.The general conditions,clinical manifestations,laboratory examinations,genetic charcteistics,treatment and follow-up(up to October 2021)were analyzed.Results Of the 5 cases,1 was female and 4 were males,aged from 13 months to 6 years at the time of consultation.The symptoms of hypoglycemia and convulsion were presented in infancy,and 4 cases had infantile cholestasis.Glucose level of 5 cases ranged from 0.79-2.20 mmol/L,ACTH ranged from<1.00-4.17 ng/L,and cortisol ranged from 0.2-3.8μg/L.Whole exon sequencing revealed that 3 cases carried homozygous TBX19 variations,and 2 cases had compound heterozygous TBX19 variations,including 3 variants that had been reported before and 3 novel variants were found.After the diagnosis was confirmed,all the cases were treated with hydrocortisone.Hypoglycemia was all corrected during the follow-up,and 4 cases no longer had convulsions.Conclusion Congenital isolated ACTH deficiency should be considered in neonates and infants with cholestasis and hypoglycemia,and the diagnosis can be confirmed by genetic testing.

关 键 词：促肾上腺皮质激素 低血糖症 胆汁淤积 肾上腺功能不全 TBX19基因 

分 类 号：R725.8[医药卫生—儿科]