[Hyperimmunoglobulin D syndrome].
[Hyperimmunoglobulin D syndrome].
复制标题
[高免疫球蛋白D综合征]。
DOI：
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发表时间：
1995
期刊：
影响因子：
2.7
通讯作者：
J. V. D. van der Meer
中科院分区：
文献类型：
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作者：
J. Drenth;N. Denecker;A. Prieur;J. V. D. van der Meer
高IGD综合征是一种罕见的疾病，其特征是早期发作周期性发热。所有患者都有升高的血清IGD(>；100U/ml)。发作期间的症状包括关节受累(关节痛/关节炎)、腹部主诉(呕吐、疼痛、腹泻)、皮肤损害、淋巴结肿大和头痛。1992年成立了一个国际高IGD研究小组，迄今已对60名患者进行了诊断，主要是欧洲患者；14名来自法国。这种疾病发生在家族中，并通过常染色体隐性遗传传播。连锁研究表明，编码家族性地中海热的基因与高免疫球蛋白缺乏症综合征的基因不同。在儿童中，高IGD综合征应与其他两种周期性发热疾病相鉴别。CINCA(慢性炎症、神经、皮肤和关节综合征)和FAPA(周期性发热、腺病、咽炎和无光性口炎)与高IGD综合征有一些相似的症状，但在这些综合征中，血清IGD是正常的。发病机制尚不清楚，但在发作期间，所有患者都有急性期反应，C反应蛋白浓度升高。在发热期，炎性细胞因子如IL-6、肿瘤坏死因子α、干扰素-γ与自然产生的抑制物如IL-1ra和sTNFr一起增加。目前还没有针对这种综合征的治疗方法，患者会在一生中经历发作，尽管发作的频率和严重性往往会随着年龄的增长而减少。
The hyper-IgD syndrome is a rare entity characterized by early onset of attacks of periodic fever. All patients have an elevated serum IgD (> 100 U/ml). Symptoms during attacks include joint involvements (arthralgias/arthritis), abdominal complaints (vomiting, pain, diarrhoea), skin lesions, swollen lymph nodes, and headache. In 1992 an International hyper-IgD study group was established, and to date the diagnosis has been made in 60, mainly European patients; 14 come from France. The disorder occurs in families and is transmitted by autosomal recessive inheritance. Linkage studies indicate that the gene encoding for familial Mediterranean fever is different from the gene for the hyper-IgD syndrome. In children the hyper-IgD syndrome should be distinguished from two other periodic febrile disorders. CINCA (chronic inflammatory, neurological, cutaneous and articular syndrome) and FAPA (periodic fever, adenopathies, pharyngitis, and aphtous stomatitis) share some symptoms with the hyper-IgD syndrome but in these syndromes serum IgD is normal. The pathogenesis remains to be elucidated but during attacks all patients have an acute-phase response with elevated C-reactive protein concentrations. During the febrile episodes, the inflammatory cytokines such as IL-6 TNF alpha, IFN gamma are increased together with natural occurring inhibitors such as IL-1ra and sTNFr. There is no therapy for the syndrome and patients will experience attacks during their entire life although frequency and severity tend to diminish with age.