Abreu Tiago Tribolet de
Serviço de Medicina 2, Hospital do Espírito Santo, Evora.
Acta Med Port. 2004 Sep-Oct;17(5):391-4. Epub 2004 Dec 20.
Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.
CASE-REPORT: We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.
We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.
HIDS is a possible diagnosis for patients with periodic fever, even in Portugal.
周期性发热可能有多种病因。在遗传性周期性发热综合征中，高IgD综合征（HIDS）是一种可能的诊断，尽管迄今为止，葡萄牙尚未有病例报道。
我们报告一名25岁女性，自8个月大起就有周期性发热。她的血清IgD水平很高，并对甲羟戊酸激酶基因进行了分子研究。发现了两个突变的复合杂合子：V377I和T237S。最后一个突变以前未曾观察到。
我们分析了使我们认为HIDS可能是诊断结果的临床特征，并强调了对HIDS与其他周期性发热进行鉴别诊断很重要的特征。
即使在葡萄牙，HIDS也是周期性发热患者的一种可能诊断。
