Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing 100730, China; Laboratory for Tumor Microenvironment and Therapeutic Resistance, VIB-KU Leuven Center for Cancer Biology, Department of Oncology, KU Leuven, Leuven, Belgium.
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing 100730, China.
Semin Arthritis Rheum. 2019 Dec;49(3):446-452. doi: 10.1016/j.semarthrit.2019.05.002. Epub 2019 May 11.
We aimed to characterize the phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases (SAIDs).
We prospectively evaluated clinical and genetic features of 92 adult patients (≥16 years) suspected of SAIDs in the period from April 2015 to October 2017, at the adult SAIDs center, Peking Union Medical College Hospital. The definite diagnosis of each disease was deemed to be present if both clinical phenotypes and genetic confirmation were met. Clinical manifestations of these patients were compared with those from the pediatric populations and patients from other countries.
A final diagnosis of SAIDs was reached in 50 patients, including 13 familial Mediterranean fever (FMF), 10 NLRP12-associated autoinflammtory disease (NLRP12-AID), 7 NLRP3-associated autoinflammatory disease (NLRP3-AID), 5 tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), 3 Blau syndrome, 3 Yao syndrome (YAOS) and 9 periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). First disease onset during adulthood was observed in 30 patients, and the final diagnosis was delayed with a median time of 9 years. Adult monogenic SAIDs patients usually carried low-penetrance mutations and all gene variants were presented as heterozygosis or compound heterozygosis. Frequencies of clinical manifestations in Chinese adult SAIDs patients were similar with adult patients in other countries, but different from pediatric populations.
FMF, NLRP3-AID, and NLRP12-AID are relatively common monogenic SAIDs in Chinese adults. Adult-onset SAIDs may be related to the presence of low-penetrance mutations, characterized by nonspecific, incomplete or atypical disease patterns compared with child-onset SAIDs, leading to a delay of diagnosis.
我们旨在描述中国成年系统性自身炎症性疾病（SAIDs）患者的表型和基因型特征。
我们前瞻性评估了 2015 年 4 月至 2017 年 10 月期间在我院成人 SAIDs 中心疑似 SAIDs 的 92 例成年患者（≥16 岁）的临床和遗传特征。如果满足临床表型和基因确认，则认为每种疾病的明确诊断存在。将这些患者的临床表现与儿科人群和其他国家的患者进行比较。
最终诊断为 SAIDs 的患者有 50 例，包括 13 例家族性地中海热（FMF）、10 例 NLRP12 相关自身炎症性疾病（NLRP12-AID）、7 例 NLRP3 相关自身炎症性疾病（NLRP3-AID）、5 例肿瘤坏死因子受体相关周期性发热综合征（TRAPS）、3 例 Blau 综合征、3 例 Yao 综合征（YAOS）和 9 例周期性发热、口疮性口炎、咽炎和颈淋巴结炎综合征（PFAPA）。30 例患者在成年后首次发病，中位延迟时间为 9 年。成年单基因 SAIDs 患者通常携带低外显率突变，所有基因变异均表现为杂合子或复合杂合子。中国成年 SAIDs 患者的临床表现频率与其他国家的成年患者相似，但与儿科人群不同。
FMF、NLRP3-AID 和 NLRP12-AID 是中国成年人中相对常见的单基因 SAIDs。与儿童发病的 SAIDs 相比，成人发病的 SAIDs 可能与低外显率突变有关，表现为非特异性、不完全或非典型的疾病模式，导致诊断延迟。
