Topaloğlu Rezan, Ayaz Nuray Aktay, Waterham Hans R, Yüce Aysel, Gumruk Fatma, Sanal Ozden
Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.
Clin Rheumatol. 2008 Oct;27(10):1317-20. doi: 10.1007/s10067-008-0911-3. Epub 2008 May 28.
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up.
高免疫球蛋白D血症和周期性发热综合征（HIDS）是一种自身炎症性综合征。它由甲羟戊酸激酶基因突变引起。目前对于HIDS的特异性治疗尚无共识，但有一些关于使用秋水仙碱、类固醇、非甾体抗炎药、辛伐他汀、阿那白滞素、沙利度胺和依那西普等药物治疗的病例报告和研究。我们报告了一例因腹痛和发热发作伴巨大肝肿大而接受评估的病例，肝肿大在体格检查中并不常见，该病例接受了依那西普治疗及长期随访。
