当前位置: X-MOL 学术Rheumatol. Int. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG)
Rheumatology International ( IF 4 ) Pub Date : 2019-11-18 , DOI: 10.1007/s00296-019-04478-3
Sulaiman M. Al-Mayouf , , Abdulaziz Almutairi , Safiya Albrawi , Basil M. Fathalla , Raed Alzyoud , Abdullatif AlEnazi , Mohammed Abu-shukair , Adel Alwahadneh , Abdullah Alsonbul , Mabruka Zlenti , Ebtisam Khawaja , Awatif Abushhaiwia , Khulood Khawaja , Zakiya AlMosawi , Wafa Madan , Muna Almuatiri , Nora Almuatiri

To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical findings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs. A total of 144 patients (93 female) with a median age at onset of 2.5 (range 0.1–12) years were enrolled. The initial diagnosis was inaccurate in 49.3%. Consanguinity rate among parents was 74.6%. The median time-to-diagnosis for all SAIDs was 2.5 (range 0.1–10) years. There were 104 patients (72.2%) with a confirmed diagnosis and 40 patients with suspected SAIDs. Seventy-two had monogenic and 66 patients with multifactorial SAIDs while six patients had undifferentiated SAIDs. The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed’s syndrome (6). The most frequent multifactorial SAIDs was CRMO (34), followed by PFAPA (18), and early onset sarcoidosis (EOS) (14). Genetic analysis was performed in 69 patients; 50 patients had genetically confirmed disease. Corticosteroid used for 93 patients while biologic agents for 96 patients. Overall, growth failure was the most frequent accrual damage (36%), followed by cognitive impairment (13%). There were three deaths because of infection. This study shows a heterogenous spectrum of SAIDs with a high number of genetically confirmed monogenic diseases; notably, LACC1 associated diseases. Hopefully, this work will be the first step for a prospective registry for SAIDs in Arab countries.

中文翻译:

阿拉伯儿童家族性地中海热以外的全身性自身炎性疾病的模式和诊断评估:阿拉伯儿童风湿病学小组(PRAG)的一项多中心研究

定义阿拉伯儿童中除家族性地中海热(FMF)以外的全身性自身炎性疾病(SAID)的光谱和表型特征,并进行诊断评估。回顾性收集1990年至2018年间在阿拉伯十所三级风湿病诊所接受过FMF以外具有临床和/或经过基因证明的SAID的患者的数据。所收集的数据包括临床发现和诊断评估,包括基因检测,所提供的治疗方法和与应计的损害相关到SAID。总共纳入了144位患者(93位女性),中位发病年龄为2.5岁(0.1-12岁)。初步诊断不准确的占49.3%。父母的血亲率是74.6%。所有SAID的中位诊断时间为2.5年(0.1-10年)。有104位患者(72。2%)确诊且40例疑似SAID患者。72例为单基因SAID,66例为多因素SAID,而6例为未分化SAID。最常见的单基因SAID是LACC1介导的单基因疾病(n  = 23),然后是CAPS(12),TRAPS(12),HIDS(12)和Majeed综合征(6)。最常见的多因素SAID是CRMO(34),其次是PFAPA(18),以及早发结节病(EOS)(14)。对69例患者进行了遗传分析。50名患者经遗传学证实患有疾病。皮质类固醇用于93例患者,而生物制剂用于96例患者。总体而言,生长衰竭是最常见的应计损伤(36%),其次是认知障碍(13%)。因感染造成三人死亡。这项研究显示了SAIDs的异质谱,其中包含大量的遗传学证实的单基因疾病。值得注意的是,LACC1相关疾病。希望这项工作将是在阿拉伯国家建立针对SAID的预期注册的第一步。
更新日期:2020-01-04
down
wechat
bug