Journalartikel
Autorenliste: Lehmann, Petra; Salzberger, Bernd; Haerle, Peter; Aksentijevich, Ivona; Kastner, Daniel; Schoelmerich, Juergen; Rosenfeld, Stephanie; Mueller-Ladner, Ulf
Jahr der Veröffentlichung: 2010
Seiten: 311-315
Zeitschrift: Modern Rheumatology
Bandnummer: 20
Heftnummer: 3
ISSN: 1439-7595
eISSN: 1439-7609
Open Access Status: Green
DOI Link: https://doi.org/10.1007/s10165-010-0273-y
Verlag: Oxford University Press
Abstract:
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.
Zitierstile
Harvard-Zitierstil: Lehmann, P., Salzberger, B., Haerle, P., Aksentijevich, I., Kastner, D., Schoelmerich, J., et al. (2010) Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site, Modern Rheumatology, 20(3), pp. 311-315. https://doi.org/10.1007/s10165-010-0273-y
APA-Zitierstil: Lehmann, P., Salzberger, B., Haerle, P., Aksentijevich, I., Kastner, D., Schoelmerich, J., Rosenfeld, S., & Mueller-Ladner, U. (2010). Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. Modern Rheumatology. 20(3), 311-315. https://doi.org/10.1007/s10165-010-0273-y
Schlagwörter
Amyloidosis; EPISODES; Etanercept; ETANERCEPT; Hereditary fever syndrome; MONOCYTIC FASCIITIS; RENAL AMYLOIDOSIS; SYNDROME TRAPS; TNFRSF1A; Tumor necrosis factor-receptor associated periodic syndrome
