title: Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.
abstract: Secondary amyloidosis (AA) is characterized by the extracellular tissue deposition of fibrils composed of fragments of an acute-phase reactant protein, serum amyloid A (SAA), due to chronic inflammatory diseases, infections and several neoplasms. AA amyloidosis may also complicate several hereditary diseases, where genetic factors play a pivotal role in the expression of amyloidosis. Familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) are the most frequently involved. We describe a case of a 21-year-old Romanian woman who presented at the 35th week of gestation with acute abdominal pain, nausea and vomiting. The laboratory workup performed after delivery showed proteinuria in the nephrotic range and increased SAA protein. Kidney amyloid deposits were detected and genetic testing for secondary amyloidosis was performed identifying two mutations, one involving the gene of FMF (MEFV), and the other involving the tumour necrosis factor receptor-1 gene (TNFRSF1A). To our knowledge, this is the first case in the literature where secondary amyloidosis develops in a patient carrying mutations involving the genes of both FMF and TRAPS.
authors.affiliation: Department of Nephrology and Dialysis , San Giovanni Di Dio Hospital , Agrigento , Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Clementi
authors.affiliation: Division of Nephrology-Hypertension, Department of Medicine , University of California , San Diego, CA , USA.
authors.forename: Dinna N
authors.initials: DN
authors.lastname: Cruz
authors.affiliation: Department of Nephrology and Dialysis , San Giovanni Di Dio Hospital , Agrigento , Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Granata
authors.affiliation: Department of Nephrology Dialysis and Transplantation , San Bortolo Hospital , Vicenza , Italy ; International Renal Research Institute (IRRIV) , Vicenza , Italy.
authors.forename: Grazia Maria
authors.initials: GM
authors.lastname: Virzì
authors.affiliation: Department of Nephrology and Dialysis , Santa Marta e Santa Venera , Acireale, Catania , Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Battaglia
keywords: TRAPS syndrome; familial Mediterranean fever; secondary amyloidosis