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首页> 外文期刊>American journal of medical genetics, Part A >Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome
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Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome

机译：一群患有Williams综合征的意大利年轻成年人中的糖尿病和糖尿病前期患病率

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Williams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty-two Italian young adults with WS (13 females, 9 males) were studied. A 75g oral glucose tolerance test (OGTT) was performed and β-cell function was estimated with Homeostasis Model Assessment (HOMA)-B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA-Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β-cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β-cell function, insulin sensitivity, and post-load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS-NGT patients had higher post-load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β-cell function, islet autoimmunity, and traditional risk factors for type 2 DM.
机译：威廉姆斯综合征（WS）是一种罕见的多系统基因组疾病，在成年期显示出较高的糖代谢受损患病率。尽管涉及基因映射到WS染色体区域的半合子性，但这种关联的原因尚不清楚。研究了22名意大利青少年WS（13名女性，9名男性）。进行75克口服葡萄糖耐量测试（OGTT），并通过稳态模型评估（HOMA）-B％，胰岛素生成指数和校正的胰岛素反应评估β细胞功能，而胰岛素敏感性通过HOMA-胰岛素抵抗指数，定量胰岛素评估检查指数和复合胰岛素敏感性指数。一名患者患有糖尿病（DM），而12例患者诊断为糖耐量降低（IGT），另一例为DM（糖代谢受损的患病率为63.6％）。 IGT患者比具有正常葡萄糖耐量（NGT）的患者对胰岛素的抵抗力更高，而β细胞功能未改变或升高。没有胰岛自身免疫。 Logistic回归显示，糖代谢异常与年龄，体重指数（BMI）或DM家族史无关。尽管WS-NGT患者的负荷后葡萄糖值较高，但NGT的WS患者与健康对照组的β细胞功能，胰岛素敏感性和负荷后胰岛素水平在性别，年龄和BMI方面均无差异。这些数据证实了在WS青年中糖代谢受损的高患病率，因此表明有必要筛查这些OGTT患者。 IGT与胰岛素敏感性降低有关，但与β细胞功能受损，胰岛自身免疫性疾病和2型DM的传统危险因素无关。

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