A nephrotic patient with tumour necrosis factor receptor-associated periodic syndrome, IgA nephropathy and CNS involvement

The periodic fever syndromes are a heterogeneous group of disorders characterized by repeated attacks of fever and localized inflammation, primarily affecting serosal surfaces, the skin and the musculoskeletal system [1]. To date, five periodic fever syndromes have been characterized on the basis of their clinical features. Except for the periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, the affected genes are known. Familial Mediterranean fever (FMF) caused by mutations in the Mediterranean fever (MEFV) gene, and the hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) due to mutations in the mevalonate kinase (MVK ) gene have an autosomal recessive inheritance [1]. The others are autosomal dominant disorders: Cryopyrin-associated periodic syndrome (CAPS) as a consequence of heterozygous mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, and the tumour necrosis factor receptor-associated periodic syndrome (TRAPS) caused by dominantly inherited mutations in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene [1]. FMF, CAPS and TRAPS are accompanied by elevated levels of amyloid A (SAA) [2,3], an acutephase protein. The recurring fever attacks result in a deposition and degradation of SAA, which can lead to amyloidosis in patients suffering from these syndromes [2,3]. This report describes a 39-year-old man diagnosed with TRAPS.