A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes.
A 41 year-old male was admitted because of nephrotic syndrome associated with renal impairment and arterial hypertension. Renal biopsy showed a complete subverting of renal architecture with eosinophilic, amorphous deposits which stained positive for Congo red and were positive for antibodies against AA-amyloid. Abdominal fat pad aspirate confirmed the diagnosis of AA amyloidosis. Despite high values of serum amyloid A (SAA), surprisingly medical history, physical examination and all tests failed to identify any underlying inflammatory disease, even asymptomatic, at presentation and during the whole follow-up period. The patient carried a mutation (Glu148Gln) in the MEFV gene, and a mutation (Arg92Gln) in the TNFRSF1A gene, both in heterozygosity. The patient has never complained of the typical features of the Familial Mediterranean fever or of the TNF receptor-associated periodic syndrome. The patient's father carried the same mutations. His father's medical history was unremarkable; renal tests, acute-phase reactants and SAA were normal. During a trial with colchicine (while the patient was also taking atorvastatin) SAA decreased, renal function continued to deteriorate and proteinuria remained high; no cardiac involvement was detected. Six months later our patient developed rhabdomyolysis, thus accelerating the decline of renal function and requiring the start of dialysis.
Cigni
Alessandro
A
Department of Clinical and Medical Pathology, University of Sassari, Italy. cignale@hotmail.com
Ledda
Franca
F
Satta
Andrea E
AE
D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D000685:Serum Amyloid A Protein / Q000032:analysis
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; D000685:Serum Amyloid A Protein