| Literature DB >> 23461592 |
Oana M Mereuta1, Simone Baldovino, Edoardo Errichiello, Giovanni B Binello, Gabriella Restagno, Giovanni G Battaglia, Gianna Mazzucco, Dario Roccatello.
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.Entities:
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Year: 2013 PMID： 23461592 DOI： 10.3109/13506129.2013.775119
Source DB: PubMed Journal: Amyloid ISSN： 1350-6129 Impact factor: 7.141