Pediatric Rheumatology, Ankara Child Health and Disease Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara, Turkey.
Department of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.
Rheumatol Int. 2018 Aug;38(8):1571-1576. doi: 10.1007/s00296-018-4092-3. Epub 2018 Jun 27.
Autoinflammatory diseases (AIDs) are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). However, a new class of autoinflammatory disease resembling FCAS or MWS has been described in patients with NLRP12 mutations. Here, we report a 6-year-old boy diagnosed with AID who developed an unexpected C3 glomerulopathy during attacks and carried a novel variation in NLRP12. Following treatment with IL (interleukin) 1 targeting agents, all symptoms and inflammation resolved. This is the first case in the literature affected by both autoinflammatory disease and C3 glomerulopathy.
自身炎症性疾病（AIDs）是一组最近被描述的疾病，由编码先天免疫系统蛋白的多个基因突变引起。冷吡啉相关周期性综合征（CAPS）是一种自身炎症性疾病，包括三种临床表现重叠的疾病：家族性冷性荨麻疹综合征（FCAS）、Muckle-Wells 综合征（MWS）和新生儿发病多系统炎症性疾病（NOMID）。CAPS 与 NLRP3（NOD 样受体家族，含 pyrin 结构域 3）的功能获得性变异有关。然而，在 NLRP12 突变的患者中，已描述了一类类似于 FCAS 或 MWS 的新的自身炎症性疾病。在这里，我们报告了一例 6 岁男孩被诊断为 AID，在发作期间出现了意外的 C3 肾小球病，并携带 NLRP12 的新变异。在接受白细胞介素（IL）1 靶向治疗后，所有症状和炎症均得到缓解。这是文献中首例同时患有自身炎症性疾病和 C3 肾小球病的病例。
