Diagnosis and Management of a Young Girl With Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) Linked to a Novel Mutation.

ABSTRACT: A nine-year-old girl with a two-month history of fever and generalized malaise, along with intermittent abdominal pain, immigrant myalgia, throat pain, anorexia, and long-standing failure to thrive, was admitted to our department for further investigation and treatment. Detailed medical history revealed recurrent inflammation attacks from a very young age and a heavily burdened family history. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) was highly suspected. Genetic screening was performed and several members of the family were found to be carriers of C73Y mutation in exon 3, which is a novel tumor necrosis factor superfamily receptor 1A (TNFRSF1A) mutation. The girl was treated with an interleukin-1? inhibitor, canakinumab, which induced immediate and complete remission of disease that interestingly lasted for a long period even after medication discontinuation.

SUBMITTER: Klinaki E 

PROVIDER: S-EPMC7606205 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature