Pediatric Research Centre, Tampere University and University Hospital, Finland.
Acta Paediatr. 2011 Jan;100(1):21-5. doi: 10.1111/j.1651-2227.2010.01974.x. Epub 2010 Aug 26.
Hyperimmunoglobulinemia D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting 3-7 days and recurring every 4-6 weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, diarrhoea and cervical lymphadenopathy, and sometimes by skin and joint symptoms. Blood leukocytes and serum C-reactive protein are elevated during the episode, and in addition, high levels of interleukine-1 (IL-1), IL-6 and tumour necrosis factor (TNF) and respective soluble receptors have been measured. Instead, serum immunoglobulin D (IgD) is usually normal until 3 years of age. Currently, there is no established treatment for HIDS. Thus far, four children have been successfully treated with etanercep, TNF-alpha inhibitor, and three children with anakinra, IL-1 receptor antagonist.
This review summarizes currently available data on the use biological medicines for HIDS in children. A Finnish 1.5-year-old patient with disease onset at 6 months of age, treated successfully with anakinra, is presented.
高免疫球蛋白血症 D 综合征（HIDS）是一种罕见的常染色体隐性遗传性自身炎症性疾病，由甲羟戊酸激酶基因的突变引起。HIDS 通常在婴儿期发病，反复发作的发热持续 3-7 天，每 4-6 周复发一次，成年后仅部分症状减轻。发热通常伴有腹痛、呕吐、腹泻和颈淋巴结肿大，有时伴有皮肤和关节症状。发作期间血液白细胞和血清 C 反应蛋白升高，此外，还测量到白细胞介素-1（IL-1）、IL-6 和肿瘤坏死因子（TNF）及其可溶性受体的高浓度。相反，血清免疫球蛋白 D（IgD）通常在 3 岁之前正常。目前，HIDS 尚无既定的治疗方法。迄今为止，已有 4 名儿童成功接受依那西普（TNF-α抑制剂）治疗，3 名儿童成功接受阿那白滞素（IL-1 受体拮抗剂）治疗。
本文综述了目前关于儿童 HIDS 使用生物药物的可用数据。介绍了一位芬兰 1.5 岁的患儿，6 个月大时发病，成功接受阿那白滞素治疗。
