■报告在患有单基因狼疮的阿拉伯儿童中选择的自身抗体的频率及其与临床特征的关联。
这项研究是在费萨尔国王专科医院和研究中心的儿童狼疮诊所进行的基因证实的单基因狼疮病例的回顾性单中心研究。从1997年6月到2022年7月。我们排除了没有基因检测的家族性狼疮和数据不足的患者。收集的数据包括临床和实验室发现,包括自身抗体谱,其中包括抗双链DNA(抗dsDNA),反史密斯,抗干燥综合征相关抗原A(抗SSA),抗干燥综合征相关抗原B(抗SSB),和抗磷脂(APL)抗体。此外,在最后一次随访时收集疾病活动和累积疾病损害.
■本研究纳入27名阿拉伯患者(14名男性),中位年龄11岁(四分位距8.0~16岁),63%患有早发性疾病。狼疮的血缘率和家族史较高(分别为74.1%和55.6%,分别)。最常见的临床特征是血液学(96.3%),发烧(81.5%),粘膜皮肤病变(85.2%),和肾脏(66.7%)。APL抗体的频率为59.3%,抗dsDNA为55.6%,抗史密斯和抗SSA分别为48.2%和44.4%,分别。此外,dsDNA抗体与肌肉骨骼疾病显著相关(p<0.05)。同样,在单因素分析中,抗Smith抗体和抗SSA抗体均与茁壮成长失败和反复感染相关(p<0.05).
■我们的研究揭示了大量单基因狼疮队列中自身抗体频率及其与临床和预后的关联。与某些自身抗体的独特临床表现和预后关联支持单基因性狼疮是狼疮的一种独特形式的观点。需要更大规模的研究来验证这些发现。
UNASSIGNED: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.
UNASSIGNED: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data. Collected data comprised clinical and laboratory findings, including the autoantibody profile, which included the anti-double-stranded DNA (anti-dsDNA), anti-Smith, anti-Sjögren\'s-syndrome-related antigen A (anti-SSA), anti-Sjögren\'s-syndrome-related antigen B (anti-SSB), and antiphospholipid (APL) antibodies. Also, disease activity and accrual disease damage were collected at the last follow-up visit.
UNASSIGNED: This study enrolled 27 Arab patients (14 males) with a median age of 11 years (interquartile range 8.0~16 years), with 63% having early-onset disease. The consanguinity rate and family history of lupus were high (74.1% and 55.6%, respectively). The most frequent clinical features were hematological (96.3%), fever (81.5%), mucocutaneous lesions (85.2%), and renal (66.7%). The frequency of the APL antibodies was 59.3%, anti-dsDNA was 55.6%, and anti-Smith and anti-SSA were 48.2% and 44.4%, respectively. Moreover, dsDNA antibodies were significantly associated with musculoskeletal complaints (p<0.05). Likewise, both anti-Smith and anti-SSA antibodies were linked to failure to thrive and recurrent infections in the univariate analysis (p<0.05).
UNASSIGNED: Our study reveals autoantibody frequencies and their association with clinical and prognostic in a substantial monogenic lupus cohort. Distinct clinical manifestations and prognosis association with certain autoantibodies support the idea that monogenic lupus is a distinctive form of lupus. Larger studies needed to validate these findings.