1例严重胰岛素抵抗患者新的胰岛素受体基因突变及文献复习

A new mutation in the insulin receptor gene in a patient with severe insulin resistance:a case report and literature review

目的:报道1例严重胰岛素抵抗病例,在其体内发现新的胰岛素受体基因突变并复习相关文献。方法:1例9岁的男性肥胖患者存在明显的胰岛素抵抗及黑棘皮病,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(insulin receptor gene,INSR)突变结果,并回顾性分析1991年至今国内学者报道的INSR基因突变型。结果:患者有黑棘皮病,实验室检查提示存在严重的胰岛素抵抗,分子诊断发现先证者及其父亲均为c.1088_1090del的杂合核苷酸变异,此突变为一新的突变类型,该突变可能与患者严重的胰岛素抵抗有关。结论:对于严重胰岛素抵抗的儿童患者,基因分析有助于进行病因诊断。

Objective:To report a new mutation in the insulin receptor(INSR)gene in a patient with severe insulin resistance and review related literature.Methods:The clinical data,laboratory test results,imaging examination results,and INSR gene mutation data of a 9-year-old obese male patient with severe insulin resistance and acanthosis nigricans were collected,and the types of INSR gene mutation reported by domestic scholars since 1991 were retrospectively analyzed.Results:The laboratory test results of the patient with acanthosis nigricans indicated severe insulin resistance.Molecular diagnosis found c.1088_1090del,a heterozygous nucleotide mutation,in both the proband and his father.This mutation was a new type of mutation and might be associated with severe insulin resistance of the patient.Conclusion:Genetic analysis can help to confirm etiology in children with severe insulin resistance.