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 hete...

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Bibliographic Details
Published in:Amyloid 2013-06, Vol.20 (2), p.122-126
Main Authors: Mereuta, Oana M., Baldovino, Simone, Errichiello, Edoardo, Binello, Giovanni B., Restagno, Gabriella, Battaglia, Giovanni G., Mazzucco, Gianna, Roccatello, Dario
Format: Article
Language:English
Subjects:
Adult
Amyloidosis - etiology
Amyloidosis - pathology
Cytoskeletal Proteins - genetics
Female
Genetic Testing
Heterozygote
Humans
Mutation - genetics
Nephrotic Syndrome - etiology
Nephrotic Syndrome - pathology
Polymorphism, Genetic - genetics
Pregnancy
Prognosis
Pyrin
Receptors, Tumor Necrosis Factor, Type I - genetics
Young Adult
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Summary: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.
ISSN:1350-6129
1744-2818
DOI:10.3109/13506129.2013.775119