Imura H, Nakao Y, Kuzuya H, Okamoto M, Okamoto M, Yamada K
Adv Exp Med Biol. 1985;190:171-85. doi: 10.1007/978-1-4684-7853-2_6.
Data on the clinical features of the Werner syndrome in 102 patients in Japan were collected by sending questionnaires to major hospitals and analyzed. The male-to-female ratio was 3 to 2 and the incidences of consanguinity and familial occurrence were 51% and 39.4%, respectively. These patients were divided into 3 subgroups; group 1, 2, and 3 lacked short stature, cataract, and hypogonadism, respectively. Each group had somewhat different clinical features. Endocrine and metabolic abnormalities in the Werner syndrome patients were compared with those in normal aged subjects. Impaired plasma growth-hormone responses to insulin and arginine were more common and impaired plasma thyrotropin responses to TRH were less common in the Werner syndrome patients than in aged subjects. Plasma LH and FSH levels were higher in most patients than those in age- and sex-matched controls; also, their serum testosterone concentrations were lower than those in age-matched controls and testicular biopsy revealed more marked atrophy than in aged subjects. Serum triiodothyronine levels tended to be lower than in age-matched controls. Oral glucose tolerance test revealed diabetic glucose tolerance in 55% and impaired glucose tolerance in 22%, although fasting blood glucose levels were elevated only in 20%. Plasma insulin response to glucose was more exaggerated in those with the Werner syndrome than in normal aged subjects. The euglycemic glucose clamp method revealed lower glucose disposal rates and insulin sensitivity indices in the Werner syndrome than in normal subjects of similar age. The number of erythrocyte insulin-binding sites was normal in the Werner syndrome patients. These results suggest a postreceptor defect in insulin resistance in the Werner syndrome.
通过向日本各大医院发送调查问卷，收集了102例沃纳综合征患者的临床特征数据并进行分析。男女比例为3比2，近亲结婚和家族发病的发生率分别为51%和39.4%。这些患者被分为3个亚组；第1组、第2组和第3组分别不存在身材矮小、白内障和性腺功能减退。每组的临床特征略有不同。将沃纳综合征患者的内分泌和代谢异常与正常老年受试者进行了比较。与老年受试者相比，沃纳综合征患者中血浆生长激素对胰岛素和精氨酸的反应受损更为常见，而血浆促甲状腺激素对促甲状腺激素释放激素的反应受损则较少见。大多数患者的血浆促黄体生成素和促卵泡激素水平高于年龄和性别匹配的对照组；此外，他们的血清睾酮浓度低于年龄匹配的对照组，睾丸活检显示萎缩比老年受试者更明显。血清三碘甲状腺原氨酸水平往往低于年龄匹配的对照组。口服葡萄糖耐量试验显示，55%的患者糖耐量异常，22%的患者糖耐量受损，尽管只有20%的患者空腹血糖水平升高。沃纳综合征患者对葡萄糖的血浆胰岛素反应比正常老年受试者更为夸张。正常血糖葡萄糖钳夹法显示，沃纳综合征患者的葡萄糖处置率和胰岛素敏感性指数低于年龄相似的正常受试者。沃纳综合征患者红细胞胰岛素结合位点的数量正常。这些结果提示沃纳综合征存在胰岛素抵抗的受体后缺陷。
