中华临床免疫和变态反应杂志2016，Vol.10Issue(4)：325-333,9.DOI:10.3969/j.issn.1673-8705.2016.04.003
中国成人自身炎症性疾病临床和基因型特点：成人自身炎症性疾病单中心报道
Clinicaland Genetic Phenotypes of Chinese Patients with Adult Autoi nflammatory Diseases：Report from an Adult Reference Centre
摘要
Abstract
Objective We aimed to characterize the clinical and genetic phenotypes of Chinese adult patients with AUID.Methods We prospectively evaluated the clinical and genetic features of adult patients (≥16 years) who were suspected to have monogenic AUID during April 2015 to May 2016 , at the adult AUID center , Department of Rheumatology of Peking Union Medical College Hospital .The diagnosis of each disease was confirmed if both clinical phenotypes and genetic confirmation criteria were met . Results During the study period , a total of 37 adult patients with suspicious clinical phenotypes mono-genic AUID were tested for a genetic study .The final diagnosis of monogenic AUID was confirmed in 16 patients (43.2% of patients tested).Two additional patients were diagnosed with periodic fever , aph-thous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.Finally, a total of 18 patients with AUID were diagnosed and were followed in our center , including 7 ( 38.9%) familial Mediterranean fever (FMF), 2 (11.1%) tumor necrosis factor-receptor associated periodic syndrome (TRAPS), 3 (16.7%) cryopyrin-associated periodic syndrome ( CAPS ) , 3 ( 16.7%) NLRP12-autoinflammtory disease ( NL-RP12-AD), 1 (5.6%) Blau syndrome (BS), and 2 (11.1%) PFAPA.Disease onset during adulthood was observed in 15 (83.3%) patients, and the final diagnosis was delayed with an average of 10 years. Adult AUID patients usually carried low-penetrance mutations and all gene variants were presented as heter -ozygosis or compound heterozygosis .Conclusion Adult AUID is not uncommon .FMF, CAPS, and NL-RP12-AD are relatively common monogenic AUID in adults .Adult-onset AUID may be related to the pres-ence of low-penetrance mutations , being characterized by nonspecific , incomplete or atypical disease pat-terns, leading to a delay of diagnosis .The interpretation of gene analysis in adult suspected AUID should be performed with caution , and if possible , should be referred to expert physicians in adult AUID center .关键词
自身炎症性疾病/成人起病/家族性地中海热/肿瘤坏死因子受体相关周期性综合征/冷炎素相关周期性综合征/NLRP12自身炎症性疾病/Blau综合征Key words
autoinflammatory diseases/adult-onset/familial mediterranean fever/tumor necrosis factor-receptor associated periodic syndrome/cryopyrin-associated periodic syndrome/NLRP12-autoinflammatory disease/Blau syndrome引用本文复制引用
沈敏,吴迪,曾小峰..中国成人自身炎症性疾病临床和基因型特点：成人自身炎症性疾病单中心报道[J].中华临床免疫和变态反应杂志,2016,10(4):325-333,9.基金项目
国家自然科学基金（81501405），北京协和医学院协和青年基金（中央高校基本科研业务费专项资金资助） （）
