来自:中国糖尿病杂志 编辑:平凡 王志新 柴晓峰 张茜 肖新华|点击数:|2015-01-28
[摘要] 目的 研究我院收治的两例严重IR综合征的临床及遗传学特征。方法 2例均进行弥散加权显像(DWI)脂肪定量、高分子脂联素测定及胰岛素受体基因测序。 结果 2例严重IR的患者,共同临床特征为高胰岛素血症、黑棘皮征、糖代谢异常及BMI正常。例1有脂肪肝和TG升高,全身脂肪含量为6.7%,高分子脂联素为0.2 (2.0~20.0) mg/L,胰岛素受体基因正常;例2齿列不齐和生长发育障碍,全身脂肪含量为34.8%,高分子脂联素为17. 9mg/L,胰岛素受体基因检测发现c.275G>A及c.2495delT的复合杂合突变,均为新发突变。 结论 2例均为罕见的遗传性严重IR综合征,例1符合先天性全身性脂肪萎缩的诊断,目前尚未发现有意义的突变基因;例2符合Rabson-Mendenhall综合征的诊断,由胰岛素受体基因编码区的复合杂合突变所致。
[关键词]严重胰岛素抵抗;脂肪萎缩;Rabson-Mendenhall综合征;胰岛素受体基因receptor gene
[Abstract] Objective To explore the clinical and genetic features of two cases of severe insulin resistance (IR) syndrome treated in our hospital. Methods The two cases were performed diffusion weighted imaging (DWI) adipose tissue quantification, polymer adiponectin measurement, and insulin receptor gene sequencing. Results The common clinical features of two cases of patients with severe IR were hyperinsulinism, acanthosis nigricans, abnormal glycometabolism and normal BMI. Case 1 had fatty liver and increased TG, the body fat content was 6.7%, and the polymer adiponectin level was 0.2 (2.0~20.0) mg/L, while the insulin receptor gene was normal. Case 2 had dental crowding and retarded growth, the body fat content was 34.8%, and the polymer adiponectin level was 17.9 mg/ml, while the compound heterozygous mutations of c.275G>A and c.2495delT were observed in the detection of insulin receptor gene, which were emerging mutations. Conclusion The two cases are both rare hereditary severe IR syndrome, the characteristics of case 1 are in accordance with the diagnosis of congenital generalized lipoatrophy, however, the meaningful mutation genes have not been identified. Case 2 is diagnose as Rabson-Mendenhall syndrome, caused by the compound heterozygous mutation in the coding region of INSR gene.
【Key words】 Severe insulin resistance; Lipoatrophy; Rabson-Mendenhall syndrome; Insulin receptor gene
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