Renal amyloidosis due to familial mediterranean fever misdiagnosed
A 16-year-old boy was referred for end-stage renal failure caused by renal amyloidosis of the AA type. He had been subject, for 13 years, to recurrent episodes of fever lasting two to three days and accompanied by abdominal and joint pains. He had a partial response to nonsteroidal antiinflammatory drugs and corticosteroids. He is consanguineous in the first degree, the third of four children, with a positive family history of recurrent episodes of fever, less severe in his older sister of 18 years old []. The diagnosis of FMF was considered. The proband's parents gave informed consent for the genetic studies reported here. Peripheral blood was collected from the proband, his sister and their parents. Molecular genetic testing for FMF was performed by DNA sequencing of exon 10 of the MEFV gene, as previously reported. As a result, M694V mutation in homozygosis was determined in both patients. As expected the parents were heterozygote carriers of M694V mutation. Molecular analysis of his younger sister allowed us to comfort her about her status of normal homozygote after an episode of articular pain that alarm her parents because of the familial history of FMF.