Aversa Tommaso, Lombardo Fortunato, Valenzise Mariella, Messina Maria Francesca, Sferlazzas Concetta, Salzano Giuseppina, De Luca Filippo, Wasniewska Malgorzata
Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Via Consolare Valeria, 98125, Messina, Italy.
Ital J Pediatr. 2015 May 15;41:39. doi: 10.1186/s13052-015-0146-2.
Aim of this commentary is to summarize the salient literature news on the relationships between autoimmune thyroid diseases (ATDs) and either Down syndrome (DS) or Turner syndrome (TS).According to literature reports both Hashimoto's thyroiditis (HT) and Graves' disease (GD) are more frequent in children with DS or TS than in those without these chromosomopathies.An up-regulation of proinflammatory cytokines might be responsible for the enhanced susceptibility of TS children to ATDs, whereas a dysregulation of immune system may favor the development of ATDs in DS.In TS children biochemical presentation of HT is less severe than in peer controls. In both DS and TS GD picture at the time of diagnosis is not significantly different than in the pediatric general population.The evolution over time of GD in DS and TS does not differ from that observed in the pediatric general population, whereas the evolution of HT in both TS and DS is more severe than in girls without these chromosomopathies.
The association with TS or DS is able to affect both epidemiology and course of ATDs by conditioning: a) an increased susceptibility to these disorders; b) a less severe biochemical presentation and a more severe evolutive pattern of HT in TS girls; c) a more severe biochemical presentation and evolution of HT in DS patients.
本评论的目的是总结关于自身免疫性甲状腺疾病(ATD)与唐氏综合征(DS)或特纳综合征(TS)之间关系的重要文献消息。根据文献报道,与无这些染色体病的儿童相比,患DS或TS的儿童中桥本甲状腺炎(HT)和格雷夫斯病(GD)更为常见。促炎细胞因子的上调可能是TS儿童对ATD易感性增加的原因,而免疫系统失调可能有利于DS中ATD的发展。在TS儿童中,HT的生化表现不如同龄对照严重。在DS和TS中,GD在诊断时的情况与儿科普通人群无显著差异。DS和TS中GD随时间的演变与儿科普通人群中观察到的情况无异,而TS和DS中HT的演变比无这些染色体病的女孩更为严重。
与TS或DS的关联能够通过以下方式影响ATD的流行病学和病程:a)对这些疾病的易感性增加;b)TS女孩中HT的生化表现较轻且演变模式更严重;c)DS患者中HT的生化表现和演变更严重。