Abstract：
Hyperimmunoglobulin D syndrome (HIDS) is a hereditary autoinflammatory disease characterized by recurrent inflammatory attacks with fever, abdominal pain, lymphadenopathy, aphthous stomatitis, and skin lesions. There are few reports on HIDS patients complicated with macrophage activation syndrome (MAS); however, to our knowledge, there is no case of HIDS with recurrent MAS attacks. We report two pediatric patients initially diagnosed as Kawasaki disease and systemic juvenile idiopathic arthritis presented with recurrent MAS episodes with prolonged fever, skin rash, hepatosplenomegaly, cervical lymphadenopathy, aphthous stomatitis, headache, pancytopenia, hyperferritinemia, and hypofibrinogenemia, finally diagnosed as HIDS with a documented homozygous MVK gene mutation. This is the first report on recurrent MAS attacks due to HIDS in pediatric patients who were successful treated with corticosteroids and anti-IL-1 therapies. Thus, clinicians should be vigilantly investigated signs of autoinflammatory diseases in patients with recurrent MAS attacks during their disease course, and HIDS should be considered an underlying disease for triggering recurrent MAS attacks. We have also reviewed the current literature regarding HIDS cases complicated with a MAS attack and summarized their demographic, treatment, and outcome characteristics. Key points • Hyperimmunoglobulin D syndrome should be considered in differential diagnosis in patients who experienced recurrent macrophage activation syndrome attacks.
摘要：
高免疫球蛋白D综合征（HIDS）是一种遗传性自身炎症性疾病，其特征是反复发作的炎症和发热，腹痛,淋巴结病，口疮性口炎，和皮肤损伤。关于HIDS患者并发巨噬细胞活化综合征(MAS)的报道很少;然而,根据我们的知识，没有HIDS反复发作的MAS病例。我们报告了两名最初诊断为川崎病和全身性幼年特发性关节炎的儿科患者，这些患者表现为反复发作的MAS发作并伴有长时间发烧，皮疹,肝脾肿大,颈淋巴结病，口疮性口炎，头痛,全血细胞减少症,高铁蛋白血症,和低纤维蛋白原血症，最终诊断为HIDS，具有纯合MVK基因突变。这是首次报告在成功使用皮质类固醇和抗IL-1疗法治疗的儿科患者中由于HIDS引起的复发性MAS发作。因此，临床医生应警惕MAS反复发作患者在病程中的自身炎症性疾病的征象，HIDS应被视为引发MAS反复发作的潜在疾病。我们还回顾了当前有关HIDS病例并发MAS攻击的文献，并总结了其人口统计学，治疗,和结果特征。要点•在反复发生巨噬细胞活化综合征发作的患者的鉴别诊断中应考虑高免疫球蛋白D综合征。
