Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes

Oana M. MereutaCMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino TorinoItalyCorrespondence[email protected]

Simone BaldovinoCMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino TorinoItaly

Edoardo ErrichielloMolecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna TorinoItaly

Giovanni B. BinelloCMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino TorinoItaly

Gabriella RestagnoMolecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna TorinoItaly

Giovanni G. BattagliaRenal Unit, Ospedale Santa Marta e Santa Venera Acireale, CataniaItaly

Gianna MazzuccoDepartment of Medical Sciences, University of Torino TorinoItaly

Dario RoccatelloCMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino TorinoItaly

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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.

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Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes

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Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes

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