End-stage renal disease associated with Familial Mediterranean fever

Abstract

A 39-year-old man had been suffering from periodic fever since childhood. He was started on hemodialysis due to secondary amyloidosis on December 2000. The patient was believed to have Familial Mediterranean fever (FMF) because of recurrent fever with peritonitis, arthritis and inflammatory changes and secondary amyloidosis in his kidneys, heart and colon. No other family member had recurrent fever. IL-6, TNF, and dopamine β-hydroxylase were not increased in the febril phase. The patient was homozygous for the M694I mutation. We report the first Japanese case of FMF associated with amyloidosis and confirmed by a gene mutation.