title: Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes.
abstract: We report the case of a 22-year-old Caucasian woman presenting with a new-onset nephrotic syndrome with normal renal function during the 35th week of pregnancy. AA (secondary) amyloidosis was further diagnosed at the renal biopsy. Extensive genetic testing revealed that the patient was heterozygous for both TNFRSF1A p.R92Q and MEFV p.M694I mutations leading to an autoinflammatory syndrome characterized by amyloid deposition as the sole manifestation.
authors: CMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino, Torino, Italy. madalina.mereuta@unito.it
authors: Oana M
authors: OM
authors: Mereuta
authors: Simone
authors: S
authors: Baldovino
authors: Edoardo
authors: E
authors: Errichiello
authors: Giovanni B
authors: GB
authors: Binello
authors: Gabriella
authors: G
authors: Restagno
authors: Giovanni G
authors: GG
authors: Battaglia
authors: Gianna
authors: G
authors: Mazzucco
authors: Dario
authors: D
authors: Roccatello
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000209:etiology* / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000209:etiology* / Q000473:pathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011247:Pregnancy; D011379:Prognosis; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human