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

Abstract

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