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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。方法两例均进行弥散加权显像(DWI)脂肪定量、高分子量脂联素测定及胰岛素受体基因测序。结果两例严重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有脂肪性肝病和TG升高,全身脂肪含量为6.7%,高分子量脂联素水平为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%,高分子量脂联素水平为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。结论两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RabsonMendenhall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。
Objective To study the clinical and genetic features of two severe IR syndromes admitted to our hospital. Methods Both DWI fat quantification, high molecular weight adiponectin determination and insulin receptor gene sequencing were performed in both cases. Results The clinical features of two patients with severe IR were hyperinsulinemia, acanthosis nigricans, abnormal glucose metabolism and normal BMI. Example 1 fatty liver disease and elevated TG, body fat content of 6.7%, high-molecular weight adiponectin level of 0.2 (2.0 ~ 20.0) mg / L, normal insulin receptor gene; Example 2 dentition and growth and development Barrier, systemic fat content of 34.8%, high molecular weight adiponectin level of 17.9mg / L, insulin receptor gene test found c.275G> A and c.2495delT complex heterozygous mutations are new mutations. Conclusions Both cases are rare inherited severe IR syndrome. Case 1 conformed to the diagnosis of congenital systemic lipoatrophy and no meaningful mutation has been found. Case 2: Diagnosis of RabsonMendenhall syndrome, encoded by the insulin receptor gene District complex heterozygous mutation caused.