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.
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes.
BALDOVINO, Simone;MAZZUCCO, Gianna;ROCCATELLO, Dario
2013-01-01
Abstract
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.File in questo prodotto:
File | Dimensione | Formato | |
---|---|---|---|
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes (1)_4aperto.pdf
Accesso aperto
Tipo di file:
POSTPRINT (VERSIONE FINALE DELL’AUTORE)
Dimensione
524.5 kB
Formato
Adobe PDF
|
524.5 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.