摘要
自身免疫性多发性内分泌腺病综合征(APS)是免疫耐受机制破坏导致多个内分泌腺体功能受损的一组临床综合征。根据遗传学特征等差异,APS被分为三类:APS-1型,APS-2型以及X连锁多内分泌腺功能障碍IPEX。APS-1型是由于自身免疫调节基因(AIRE)突变导致的常染色体单基因遗传病,APS-2型是一组多基因(HLA及非HLA基因)遗传相关器官特异性自身免疫性疾病,而IPEX则与FOXP3基因突变相关。APS患者相关自身抗体的出现往往预示器官功能的损伤,诊断时测定自身抗体较基因检测具有更高的性价比。及早精确诊断并采用免疫调节治疗有可能阻止器官发生不可逆免疫损伤。
The autoimmune polyendocrine syndromes （APS） are the conditions characterized by coexistence of at least two organ- specific endocrine autoimmune disorders due to loss of immune tolerance. It can be classified into APS type 1, APS type 2, and IPEX. APS type 1 is caused by mutations ofthe AIRE gene, which leads to impaired self-tolerance. APS type 2 is a polygenetic disorder in which major susceptibility is associated with HLA alleles but also influenced by many other non-HLA gene polyrnorphisms. IPEX syndrome is caused by mutations in the FOXP3 gene in regulatory T ceils. The presence of autoantibodies precedes tissue destruction, and measurement of these autoantibodies would be a cost-effective tool for first-line screening before genetic testing. Combining early and refined diagnostics with personalized genomics could enable physicians to apply early immunomodulatory therapy that would prevent the occurrence of irreversible immune damage.
作者
狄红杰
陈国芳
刘超
DI Hong-jie;CHEN Guo-fang;LIU Chao(Endocrine and Diabetes Center,Affiliated Hospital of Integrated Traditional Chinese and Western Medicine,Nanjing University of Chinese Medicin;Jiangsu Province Academy of Traditional Chinese Medicine,Nanjing,210028)
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2018年第10期900-903,共4页
Chinese Journal of Practical Internal Medicine
