Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome.
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome.
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非甾体抗炎药治疗高 IgD 综合征。
DOI：
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发表时间：
2001
影响因子：
27.4
通讯作者：
A. Buoncompagni
中科院分区：
文献类型：
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作者：
P. Picco;M. Gattorno;M. Di Rocco;A. Buoncompagni
高IGD综合征(HIDs)是由于甲氧戊酸激酶编码基因的突变，该酶在类异戊二烯和胆固醇的合成中起关键作用1到目前为止，关于HIDs应该如何治疗还没有达成共识。在这里，我们报告了我们的经验与HIDS儿童治疗不同的药物方案。
孩子的父母是健康的、没有血缘关系的意大利人。他之所以引起我们的注意，是因为每隔20-30天就会出现周期性的发烧高峰。在发烧期间，他通常会出现寒战、无关节炎的关节痛、身体不适和腹痛伴腹泻。急性时相反应阳性(C反应蛋白2.9 mg/L；正常值4 mg/L)。腹部回声…
Hyper-IgD syndrome (HIDS) is due to mutations of the gene coding for mevalonate kinase, an enzyme that has a pivotal role in the synthesis of isoprenoids and cholesterol.1 So far, there is no consensus about how HIDS should be treated. Here we report our experience with a child with HIDS treated with different drug regimens.
The child was born to healthy, unrelated Italian parents. He came to our attention because of periodic fever spikes, which occurred every 20–30 days. During fever flare ups, he usually developed chills, arthralgias without arthritis, malaise, and abdominal pain with diarrhoea. Severe leucocytosis (up to 39 × 109/l) and acute phase reactant positivity (C reactive protein 2.9 mg/l; normal values <4 mg/l) were also detected. An abdominal echo …
家族性地中海热患者常见基因型的基因型-表型评估。
DOI：
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发表时间：
2000
期刊：
The Journal of rheumatology
影响因子：
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作者：
Shinar,Y;Livneh,A;Langevitz,P;Zaks,N;Aksentijevich,I;Koziol,DE;Kastner,DL;Pras,M;Pras,E
通讯作者：
Pras,E