Abstract：
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome\'s patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams-Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with p > .1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams-Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients.
摘要：
威廉姆斯-贝伦综合征被认为是乳糜泻的风险增加，至于最近的文献资料和乳糜泻指南，尽管致病机制仍不清楚。我们的研究分析了自身免疫性疾病的患病率，HLADQ2和/或DQ8单倍型，一组93例Williams-Beuren综合征患者(平均年龄21.26岁)的转谷氨酰胺酶抗体和乳糜泻诊断。我们的研究表明，乳糜泻的患病率增加了10.8％（10/93患者）。与一般人群中的文献数据相比，我们没有发现威廉姆斯-贝伦综合征受试者的易感HLA频率显着不同（49.5%vs.42.9%,p>.1)，对自身免疫也不敏感.这表明Williams-Beuren综合征中乳糜泻患病率的增加不能归因于HLA单倍型，并且可能与这些患者中仍需要确定的其他因素有关。
