Periodic syndrome associated with the mutation of the receptor gene of the tumor necrosis factor (clinical case).

摘要: The paper deals with a case of TRAPS in Ukrainian family. manifestations this syndrome appeared at the age 2,5 years and gradually attacks fever became morefrequent recurrence was typical diagnosis. Classically, besides fever, there an intense abdominal pain, such as "acute abdomen", arthralgia right hip headache. Micropoliadenia also detected. This patient did not have any other symptoms. A genetic study found mutation TNFRSF1A gene (substitution exon 4 3449T> G: p.C117G). has been recorded international electronic database INFEVERS. child administered pathogenetic therapy selective blocker interleukin (IL-1) receptors (anakinra) dose 1-5 mg / kg body weight subcutaneously daily. After first injection anakinra got rid joint pain. 1 week therapy, laboratory parameters disease activity (ESR, CRP) normal. taken for two years, were no exacerbations or side effects due to treatment. variety clinical congenital periodic presence previously unknown mutations that lead development auto-inflammatory syndromes, indicate need detailed these diseases.