Rheumatol Int. 2012 Jul;32(7):1939-43. doi: 10.1007/s00296-011-1886-y. Epub 2011 Apr 2.
Aim of this study is to analyze the demographic, clinical, and biochemical features, and survival of familial juvenile systemic lupus erythematosus (FJSLE) in Arab children. The medical records of children with FJSLE seen at three pediatric rheumatology clinics in Saudi Arabia and Oman were retrospectively reviewed. All included children have met the following criteria: Arab ethnicity, definite diagnosis of SLE using the revised 1982 American College of Rheumatology classification criteria and family history of more than one affected sibling with SLE. The collected data included: gender, age at diagnosis, clinical and laboratory features at diagnosis. Unusual co-morbidity and mortality associated with the disease were studied. There were 50 children with FJSLE belonging to 18 families; the frequency of FJSLE in our cohort was 20.8%. The mean age at onset of SLE was 86 months (range, 18-168 months), while the mean age at diagnosis was 95 months (range, 24-192 months), and the mean duration of follow-up was 60.9 months (range, 7-132 months). The proportion of girls was predominant (78%). Autosomal recessive mode of inheritance was strongly suggested in number of our families. Mucocutaneous manifestations, arthritis, and nephritis were the most frequent features. Thirty-five patients had renal lesions, 18 of them had class IV nephritis according WHO classification. All patients were treated with different doses of steroid and immunosuppressive drugs; 37 (74%) patients received cyclophosphamide, and 6 patients treated with Rituximab. There were 5 patients required dialysis due to ESRD and 8 deaths related to SLE during the period of follow-up. FJSLE is not uncommon in our society. These findings may be helpful in identifying SLE patients with a stronger genetic predisposition; hopefully, one or more additional risk loci can be identified in multiplex Arab families that are different from what has been reported in other ethnic populations.
本研究旨在分析阿拉伯儿童家族性幼年系统性红斑狼疮(FJSLE)的人口统计学、临床和生化特征及生存情况。对沙特阿拉伯和阿曼三家儿科风湿病诊所就诊的 FJSLE 患儿的病历进行了回顾性分析。所有纳入的患儿均符合以下标准:阿拉伯裔、使用修订后的 1982 年美国风湿病学会分类标准明确诊断为 SLE、家族中有 1 个以上受累的 SLE 同胞。收集的数据包括:性别、诊断时的年龄、诊断时的临床和实验室特征。研究了与疾病相关的不常见合并症和死亡率。共有 50 名 FJSLE 患儿属于 18 个家系;我们队列中 FJSLE 的发生率为 20.8%。SLE 的发病年龄平均为 86 个月(范围,18-168 个月),诊断年龄平均为 95 个月(范围,24-192 个月),随访时间平均为 60.9 个月(范围,7-132 个月)。女孩的比例占优势(78%)。在我们的一些家庭中,强烈提示存在常染色体隐性遗传模式。黏膜皮肤表现、关节炎和肾炎是最常见的特征。35 例患者有肾脏病变,根据 WHO 分类,其中 18 例为 4 型肾炎。所有患者均接受不同剂量的类固醇和免疫抑制剂治疗;37 例(74%)患者接受环磷酰胺治疗,6 例患者接受利妥昔单抗治疗。有 5 例因 ESRD 需要透析,8 例死亡与 SLE 有关。在我们的社会中,FJSLE 并不罕见。这些发现可能有助于识别具有更强遗传易感性的 SLE 患者;希望在与其他种族人群不同的阿拉伯多系家庭中能发现 1 个或多个额外的风险基因座。