2例A型胰岛素抵抗综合征患者携带胰岛素受体基因c.3449T>C突变  

Two patients with type A insulin resistance syndrome carried mutation with insulin receptor gene c.3449T>C

作　　者：王慧萍 任卫东[2] 任雁林[3] 史丽[2] WANG Huiping;REN Weidong;REN Yanlin;SHI Li(Department of International Medical Services,the First Affiliated Hospital of Hebei North University,Zhangjiakou 075000,China;Department of Endocrinology,the First Affiliated Hospital of Hebei North University,Zhangjiakou 075000,China;Department of Reproductive Medicine,the First Affiliated Hospital of Hebei North University,Zhangjiakou 075000,China)

机构地区：[1]河北北方学院附属第一医院国际医疗部,河北张家口075000 [2]河北北方学院附属第一医院内分泌科,河北张家口075000 [3]河北北方学院附属第一医院生殖医学科,河北张家口075000

出　　处：《基础医学与临床》2025年第4期505-510,共6页Basic and Clinical Medicine

基　　金：河北省医学科学研究课题(20241510)。

摘　　要：目的报道2例A型胰岛素抵抗综合征病例,发现新的胰岛素受体基因突变。方法收集其临床资料、实验室检查、影像学检查及胰岛素受体基因(INSR)突变结果,并回顾性分析国内外学者报道的A型胰岛素抵抗综合征病例。结果1例有口干多饮及高雄激素血症,另1例有原发性闭经,均存在胰岛素抵抗,2例患儿的胰岛素受体基因发生杂合错义突变c.3449T>C(p.L1150P),2例患儿母亲均携带此突变,父亲均无此突变。此突变型在国内外均未见报道。文献复习提示:此病发病年龄小,女性多见,BMI为(20.37±5.47)kg/m 2,空腹血糖4.50 mmol/L(4.10,13.00),胰岛素抵抗的比例为100%,92.0%有黑棘皮样变,睾酮增高的比例为81.3%,糖尿病并发症出现较早。结论对于严重胰岛素抵抗的患儿,基因分析有助于病因诊断。Objective To report two cases of type A insulin resistance syndrome with new insulin receptor gene mutations.Methods Clinical data,laboratory examination,imaging examination and mutation scanning of insulin receptor gene were collected,and type A insulin resistance syndrome reported by domestic and foreign scholars were analyzed retrospectively.Results One case had dry mouth,polydipsia and hyperandrogenemia,and another case had primary amenorrhea,both of them had insulin resistance.Two cases had heterozygous missense mutation in insulin receptor gene C.3449T>c(p.L1150P).The mothers of the two probands all carried this mutation,while the fathers did not.This mutation has not been reported previously.Literature review shows that the onset age of this disease is young,and it is more common in women.BMI 20.37±5.47 kg/m 2,fasting blood-glucose 4.50 mmol/L(4.10,13.00),the proportion of insulin resistance is 100%,92.0%has acanthoid nigricans,and the proportion of Testosterone above normal is 81.3%,diabetes complications appear earlier.Conclusions Genetic analysis is helpfulfor the etiological diagnosis in children with severe insulin resistance.

关 键 词：A型胰岛素抵抗综合征 基因突变 

分 类 号：R587.1[医药卫生—内分泌]