Guaraldi Federica, Rossetto Giaccherino Ruth, Lanfranco Fabio, Motta Giovanna, Gori Davide, Arvat Emanuela, Ghigo Enzio, Giordano Roberta
Front Horm Res. 2017;48:133-146. doi: 10.1159/000452912. Epub 2017 Feb 28.
Since the mid 1900s, a significant increase of infectious, hematological, and autoimmune diseases has been reported in patients with Down's syndrome (DS), independent of sex, age, family history, and exposure to other risk factors, suggesting an intrinsic alteration of the immune system. Several in vitro and in vivo studies have demonstrated alterations of both cellular and humoral immunological response mainly, although not exclusively, secondary to alterations of the expression of autoimmune regulator gene (located on chromosome 21), leading to thymic structural and functional impairments. Autoimmune thyroid disorders (i.e. Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders associated with DS, and present with some peculiar features. The underlying etiopathogenic mechanisms and clinical significance of some mild laboratory alterations are still poorly understood. For these aspects, together with the associated multiple comorbidities and intellectual impairment - that make DS patients dependent on care givers - and in the absence of definite guidelines, disease management is very challenging and should be patient-tailored.
自20世纪中叶以来，据报道唐氏综合征（DS）患者的感染性、血液学和自身免疫性疾病显著增加，与性别、年龄、家族史以及接触其他风险因素无关，这表明免疫系统存在内在改变。多项体外和体内研究表明，细胞免疫和体液免疫反应均发生改变，主要（但不仅限于此）继发于自身免疫调节基因（位于21号染色体上）表达的改变，导致胸腺结构和功能受损。自身免疫性甲状腺疾病（即桥本甲状腺炎和格雷夫斯病）和1型糖尿病是与DS相关的最常见的自身免疫性内分泌疾病，且具有一些特殊特征。一些轻微实验室改变的潜在病因机制和临床意义仍知之甚少。对于这些方面，再加上相关的多种合并症和智力障碍——这使得DS患者依赖护理人员——并且在缺乏明确指南的情况下，疾病管理极具挑战性，应针对患者进行个体化治疗。
