Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

Vol.20 No.3

Case Report

Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

Authors

Petra Lehmann^1,5 , Bernd Salzberger² , Peter Haerle² , Ivona Aksentijevich³ , Daniel Kastner³ , Juergen Schoelmerich² , Stephanie Rosenfeld² , Ulf Mueller-Ladner⁴

University Clinic of Regensburg, Regensburg, Germany
Department of Internal Medicine I, University Clinic of Regensburg, Regensburg, Germany
National Institute of Health, Bethesda, MD, USA
Kerckhoff-Klinik, Department of Rheumatology, Justus-Liebig-University, Giessen, Germany
Department of Internal Medicine I, University Medical Center Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany

Received:

17 November 2009

Accepted:

15 January 2010

Published online:

19 February 2010

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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.

Key words

Hereditary fever syndrome - Tumor necrosis factor-receptor associated periodic syndrome - Etanercept - Amyloidosis