Wauters I M, Linskens R K, Stehouwer C D
Academisch Ziekenhuis Vrije Universiteit, afd. Interne Geneeskunde, Amsterdam.
Ned Tijdschr Geneeskd. 2000 Apr 22;144(17):809-11.
In a 45-year-old man who from early childhood had been suffering of periodic fever, which did not respond to any therapy attempted, the ultimate diagnosis was hyperimmunoglobulinaemia D syndrome (HIDS). HIDS attacks typically occur every 4-6 weeks and last 3-7 days. The most frequent symptoms are fever, diarrhoea, arthralgias, cold shivers, abdominal pain, vomiting and headache. Physical examination often reveals lymphadenopathy, skin lesions, arthritides, splenomegaly and serositis. Laboratory investigation includes an acute-phase response with granulocytosis and enhanced erythrocyte sedimentation rate. The serum concentration of IgD is increased as is the concentration of IgA. There is no causal therapy. A causative gene mutation was recently identified.
一名45岁男性自幼患有周期性发热,尝试过的任何治疗均无效,最终诊断为高免疫球蛋白D综合征(HIDS)。HIDS发作通常每4 - 6周发生一次,持续3 - 7天。最常见的症状是发热、腹泻、关节痛、寒战、腹痛、呕吐和头痛。体格检查常发现淋巴结病、皮肤病变、关节炎、脾肿大和浆膜炎。实验室检查包括伴有粒细胞增多和红细胞沉降率加快的急性期反应。IgD的血清浓度升高,IgA浓度也升高。没有因果性治疗方法。最近发现了致病基因突变。