Bar R S, Levis W R, Rechler M M, Harrison L C, Siebert C, Podskalny J, Roth J, Muggeo M
N Engl J Med. 1978 May 25;298(21):1164-71. doi: 10.1056/NEJM197805252982103.
The syndrome of ataxia telangiectasia is associated with glucose intolerance and insulin resistance. We examined the status of insulin receptors on circulating monocytes and on cultured fibroblasts from two siblings with ataxia telangiectasia and severe insulin resistance. 125I-insulin binding to monocytes of the two patients consistently demonstrated an 80 to 85 per cent decrease in receptor affinity. In contrast, the defect in receptor affinity was not expressed on the patients' cultured fibroblasts or on monocytes or fibroblasts obtained from unaffected family members. Whole plasma and immunoglobulin-enriched fractions of plasma from the patients inhibited the normal binding of insulin to its receptors on cultured human lymphocytes (IM -9 line) and on human placental membranes. We conclude that the insulin resistance in the two siblings with ataxia telangiectasia was associated with defects in the affinity of the receptors for insulin, probably caused by circulating inhibitors of insulin binding.
共济失调毛细血管扩张症综合征与葡萄糖不耐受和胰岛素抵抗有关。我们检查了两名患有共济失调毛细血管扩张症和严重胰岛素抵抗的同胞循环单核细胞和培养成纤维细胞上胰岛素受体的状态。125I胰岛素与两名患者单核细胞的结合始终显示受体亲和力下降80%至85%。相比之下，受体亲和力缺陷在患者的培养成纤维细胞上未表现出来，在未受影响家庭成员的单核细胞或成纤维细胞上也未表现出来。患者的全血浆和富含免疫球蛋白的血浆部分抑制了胰岛素与培养的人淋巴细胞（IM -9系）和人胎盘膜上其受体的正常结合。我们得出结论，两名患有共济失调毛细血管扩张症的同胞中的胰岛素抵抗与胰岛素受体亲和力缺陷有关，可能是由循环中的胰岛素结合抑制剂引起的。
