title: Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up.
abstract: 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.
authors.affiliation: Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey. rtopalog@hacettepe.edu.tr
authors.forename: Rezan
authors.initials: R
authors.lastname: Topaloğlu
authors.forename: Nuray Aktay
authors.initials: NA
authors.lastname: Ayaz
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
mesh_terms: D002675:Child, Preschool; D000068800:Etanercept; D010505:Familial Mediterranean Fever / Q000150:complications / Q000188:drug therapy; D006529:Hepatomegaly / Q000150:complications / Q000188:drug therapy; D006579:Heterozygote; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use*; D013163:Splenomegaly / Q000150:complications / Q000188:drug therapy; D014409:Tumor Necrosis Factor-alpha / Q000037:antagonists & inhibitors*
chemical_list: D007074:Immunoglobulin G; D018124:Receptors, Tumor Necrosis Factor; D014409:Tumor Necrosis Factor-alpha; D000068800:Etanercept