Balcı Sibel, Kışla Ekinci Rabia Miray, Serbes Mahir, Doğruel Dilek, Altıntaş Derya Ufuk, Yılmaz Mustafa
Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey.
Department of Pediatric Allergy and Immunology, Cukurova University Faculty of Medicine, Adana, Turkey.
Pediatr Allergy Immunol Pulmonol. 2019 Sep 1;32(3):131-134. doi: 10.1089/ped.2019.1036. Epub 2019 Sep 17.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, in which infections are the main presenting symptoms. Moreover, patients may also experience inflammatory and autoimmune manifestations. With proper management of infections, patients now survive to adulthood, and inflammatory manifestations have become more prominent problems. Treatment of the inflammatory manifestations in CGD is challenging and requires a multidisciplinary approach. Since tumor necrosis factor (TNF)-α has been cited as having a possible role on inflammatory conditions in CGD, etanercept, an anti-TNF agent, may represent a major advance in the management of inflammatory manifestations. In this report, we described a 15-year-old boy, suffering concurrently both from human leukocyte antigen (HLA)-B27-positive chronic arthritis and CGD, whose arthritis did not respond to treatment with methotrexate and ibuprofen. Remission was achieved 6 months after etanercept initiation and during the next 18 months on medication, we did not encounter any signs of severe infections. Treatment of inflammatory conditions in CGD patients is still challenging in view of the lack of evidence-based therapeutic options. In this study, we report the first pediatric CGD case, in which chronic arthritis was successfully treated with etanercept.
慢性肉芽肿病（CGD）是一种罕见的原发性免疫缺陷病，感染是其主要临床表现。此外，患者还可能出现炎症和自身免疫表现。随着感染得到妥善管理，患者如今能够存活至成年，炎症表现已成为更为突出的问题。CGD炎症表现的治疗具有挑战性，需要多学科方法。由于肿瘤坏死因子（TNF）-α被认为可能在CGD的炎症状态中发挥作用，抗TNF药物依那西普可能代表了炎症表现管理方面的一项重大进展。在本报告中，我们描述了一名15岁男孩，同时患有人类白细胞抗原（HLA）-B27阳性慢性关节炎和CGD，其关节炎对甲氨蝶呤和布洛芬治疗无反应。依那西普开始治疗6个月后病情缓解，在接下来的18个月用药期间，我们未遇到任何严重感染迹象。鉴于缺乏循证治疗选择，CGD患者炎症状态的治疗仍然具有挑战性。在本研究中，我们报告了首例使用依那西普成功治疗慢性关节炎的儿科CGD病例。
