Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
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DOI：
10.1093/rheumatology/kem200
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发表时间：
2007-10-01
期刊：
影响因子：
5.5
通讯作者：
Ravet, N.
中科院分区：
文献类型：
--
作者：
Ammouri, W.;Cuisset, L.;Ravet, N.
目标。高免疫球蛋白D血症和周期性发热综合征（HIDS）最初被定义为与反复发热相关的高血清免疫球蛋白D水平。自从发现编码甲羟戊酸激酶的甲羟戊酸激酶基因（MVK）以来，大多数临床诊断为HIDS的患者现在根据代谢和遗传数据发现有甲羟戊酸激酶缺乏症。我们的目的是评估高血清IgD水平对反复发热表型的HIDS患者的诊断价值，并确定血清IgD水平高且无甲羟戊酸激酶突变的患者的特征。50例临床症状符合HIDS的患者的主要临床和生物学资料已前瞻性地登记在标准表格上。根据血清IgD水平和MVK是否存在突变分析临床资料。在所有病例中，建立HIDS诊断的代谢和遗传数据都是相关的。在这50例患者中，高IgD值对HIDS诊断的敏感性为0.79。在5例MVK突变患者中，发现IgD水平在正常范围内。似然比表明，IgD测量与HIDS的诊断无关。大多数血清IgD水平高且无MW突变的患者没有明确的诊断。在我们的人群中，IgD测量与MKD诊断的临床相关性似乎很差，这反映在接近1的似然比上。
Objective. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was originally defined by the presence of a high serum level of immunoglobulin D associated with recurrent fever. Since the discovery of the mevalonate kinase gene (MVK) gene encoding the mevalonate kinase enzyme, most patients with a clinical diagnostic of HIDS are now found to have a mevalonate kinase deficiency based on metabolic and genetic data. We aimed to asses the value of a high IgD serum level for the diagnosis of HIDS in a cohort of patients with a phenotype of recurrent fever, and to characterize patients with a high IgD serum level without mevalonate kinase mutation.Methods. Main clinical and biological data of 50 patients who presented with clinical signs compatible with HIDS have been prospectively registered on a standard form. Clinical data have been analysed according the IgD serum level and the presence of MVK mutation.Results. The metabolic and genetic data establishing the diagnosis of HIDS correlated in all cases. In this series of 50 patients, the sensitivity of a high IgD value for the diagnosis of HIDS is 0.79. In five patients with MVK mutation, IgD levels were found to be in the normal range. Likelihood ratios indicate that IgD measurement is not relevant for the diagnostic of HIDS. Most patients with a high serum IgD level and no MW mutation have no definite diagnosis.Conclusion. The clinical relevance of the IgD measurement for the diagnosis of MKD in our population appears as poor, as reflected by likelihood ratios which are both close to 1.