儿童家族性地中海热伴发眼部炎症性疾病：真实关联还是巧合？
Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?
机构信息
Department of Pediatric Rheumatology, Faculty of Medicine, Ankara University School of Medicine, Ankara, Turkey.
Department of Ophthalmology, Faculty of Medicine, Ankara University, Ankara, Turkey.
出版信息
Int Ophthalmol. 2022 Apr;42(4):1249-1257. doi: 10.1007/s10792-021-02111-6. Epub 2021 Nov 16.
PURPOSE
To describe the characteristics of patients with familial Mediterranean fever (FMF) with concurrent ocular inflammatory disease (OID) and to analyze possible relations between them.
METHODS
Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs reported in patients with FMF was reviewed.
RESULTS
Among 512 pediatric patients with FMF, five cases were found to have OIDs: bilateral anterior chronic uveitis, bilateral panuveitis, recurrent optic neuritis (RON), recurrent orbital myositis (ROM), and acquired Brown's syndrome. The first cases of ROM and acquired Brown's syndrome in FMF have been described in the literature. All cases presented with early-onset typical FMF attacks, carried at least one M694V mutation, and experienced OID while on colchicine.
CONCLUSION
Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome, especially those carrying M694V mutations, may be a predisposing factor for OIDs.
目的
描述伴发眼部炎症性疾病（OID）的家族性地中海热（FMF）患者的特征，并分析两者之间可能存在的关系。
方法
从电子病历中提取临床数据。此外，还回顾了 FMF 患者眼部炎症性疾病的医学文献。
结果
在 512 例儿科 FMF 患者中，发现 5 例伴发 OID：双侧前慢性葡萄膜炎、双侧全葡萄膜炎、复发性视神经炎（RON）、复发性眼外肌炎（ROM）和获得性 Brown 综合征。FMF 中首次出现 ROM 和获得性 Brown 综合征的病例在文献中已有报道。所有病例均表现为早发性典型 FMF 发作，至少携带一个 M694V 突变，在接受秋水仙碱治疗时出现 OID。
结论
儿科人群中 FMF 伴发 OID 的频率增加，以及 OID 反复发作和慢性病程，偶尔伴有 FMF 发作，提示这种炎症综合征，尤其是携带 M694V 突变的患者，可能是 OID 的一个易感因素。
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