Pediatric Immunology, Mother and Child Health Institute, Medical Faculty, University of Belgrade, 8 R, Dakica Street, Belgrade 11070, Serbia.
Ital J Pediatr. 2013 Sep 17;39:59. doi: 10.1186/1824-7288-39-59.
We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary immunodeficiencies (PID), septic arthritis due to pyogenic bacteria or mycoplasmal arthritis are the most common osteoarticular manifestations. In certain PID, chronic, non-infectious arthritis resembling rheumatoid arthritis may occur. In our patient microbiologic cultures of synovial fluid including Mycoplasma spp. were negative. At first, because of suspected mycoplasmal arthritis we used macrolides and doxycycline combined with hydroxychloroquine but without therapeutic response. However, the use of rituximab led to remission of her polyarthritis lasting for 9 months. Autoimmune features were rarely reported in NBS. An occurrence of JIA-like, chronic polyarthritis in NBS, a DNA repair disorder characterized by decreased tolerance of immunosuppressive drugs such as methotrexate and a high natural risk for lymphomas, makes therapeutic approach even more complex.
我们报告了一例尼曼匹克破碎综合征（NBS）儿科患者，这是一种罕见的 DNA 修复障碍，其特征为小头畸形、免疫缺陷和恶性淋巴瘤易感性，该患者发生了幼年特发性关节炎（JIA）样多发性关节炎。在原发性免疫缺陷（PID）患者中，化脓性细菌引起的化脓性关节炎或支原体关节炎是最常见的骨关节表现。在某些 PID 中，可能会发生类似于类风湿关节炎的慢性、非传染性关节炎。在我们的患者中，包括支原体属在内的滑膜液微生物培养均为阴性。起初，由于疑似支原体关节炎，我们使用了大环内酯类和多西环素联合羟氯喹，但没有治疗反应。然而，利妥昔单抗的使用导致她的多发性关节炎缓解，持续了 9 个月。在 NBS 中，自身免疫特征很少见。在 NBS 中，一种以降低对免疫抑制剂（如甲氨蝶呤）的耐受性和高淋巴瘤自然风险为特征的 DNA 修复障碍中，出现 JIA 样慢性多发性关节炎，使治疗方法更加复杂。
