Abstract: Background　Infantile spasms（IS） is a common catastrophic epilepsy in infancy and early childhood with poor response to many anti-epileptic drugs.Even if the patients use adrenocorticotropic hormone（ACTH），an agent as the first choice for this disease，only 60%-80% of them have responses.Identifying the factors associated with the response to ACTH in IS patients，and making use of advantages and avoiding disadvantages to improve it，become a hot and difficult research topic.Objective　To study the clinical outcome and severe VEEG abnormalities in response to ACTH in infants with IS and different MC2R genotypes.Methods　Fifty-six inpatients with IS who were treated in Children's Hospital of Hebei Province during October 2016 to October 2018 were enrolled.Data concerning physical examination，VEEG，and whole exomesequencing were collected.According to the haplotypes constituted by 4 SNPS in the promoter region of MC2R gene，they were divided into TCCT carrying group （n=46）（TCCT/TCCT or TCCT/0） and TCCT non-carrying group（n=10）（0/0）．All of them received 28-day ACTH treatment at a dose of 1 U/kg×3 d+2 U /kg×25 d（the maximum amount not exceeding 25 U）．Clinical outcome and severe VEEG abnormalities in response to ACTH in both groups were observed.Results　Post-treatment status showed that，treatment response rate was 78.2% in TCCT carrying group（36 were responsive to ACTH and 10 were not），and 3/10 in TCCT non-carrying group（3 were responsive to ACTH and 7 were not），showing significant intergroup difference（χ2=9.26，P<0.05）．Of the 43 cases（36 in TCCT carrying group and 7 in TCCT non-carrying group） detected with severe VEEG abnormalities，the rate of having reduced abnormalities was 66.7% in TCCT carrying group（24 achieved improvement while 12 did not），and was 3/7 in TCCT non-carrying group（3 achieved improvement while 4 did not），indicating insignificant intergroup difference（χ2=1.46，P>0.05）．Conclusion　IS patients with MC2R gene TCCT showed good responses to ACTH.But the rates of reduction in VEEG abnormalities were similar in those with MC2R gene TCCT and without.

Key words: Spasms, infantile；Adrenocorticotropic hormone；Melanocortin2-receptor gene；Treatment outcome

摘要： 背景　婴儿痉挛症为婴幼儿期常见的灾难性癫痫，对多种抗癫痫药物反应欠佳。促肾上腺皮质激素（ACTH）作为其首选用药，有效率在60%~80%。寻找影响ACTH疗效的因素，并加以利用而提高ACTH有效率，成为当前该领域研究的热点及难点之一。目的　探讨ACTH对不同黑素皮质素受体2（MC2R）基因型婴儿痉挛症疗效及高度失律缓解的影响，进而指导临床治疗。方法　选取2016年10月—2018年10月在河北省儿童医院住院部行ACTH治疗且符合入组标准的婴儿痉挛症56例，进行体格检查、视频脑电图、基因全外显子检查等。根据MC2R基因启动子区4个单核苷酸多态性（SNP）构成的单体型类型分为TCCT携带组（n=46）即TCCT/TCCT或TCCT/0，TCCT非携带组（n=10）即0/0型。均给予ACTH治疗：1 U/kg×3 d+2 U/kg×25 d（共28 d，最大量不超过25 U）。观察两组患儿治疗有效率及高度失律缓解率。结果　治疗28 d后，TCCT携带组有效36例，无效10例，有效率为78.2%；TCCT非携带组有效3例，无效7例，有效率为3/10。TCCT携带组有效率高于TCCT非携带组（χ2=9.26，P<0.05）。视频脑电图检查结果显示高度失律检出率为43例，占76.8%（43/56），TCCT携带组36例，治疗28 d后，缓解24例，未缓解12例，缓解率为66.7%；TCCT非携带组7例，治疗28 d后，缓解3例，未缓解4例，缓解率为3/7。两组高度失律缓解率比较，差异无统计学意义（χ2=1.46，P>0.05）。结论　在婴儿痉挛症治疗中，ACTH对MC2R基因TCCT携带型的痉挛发作治疗效果显著，而两组高度失律缓解率无明显差异。

关键词: 痉挛, 婴儿；促肾上腺皮质激素；黑素皮质素受体2基因；治疗结果