[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases].

Rev Med Chil

Departamento de Gastroenterología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago de Chile.

Published: December 2006

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.

Download full-text PDF

Source
http://dx.doi.org/10.4067/s0034-98872006001200010DOI Listing

Publication Analysis

Top Keywords

necrosis factor
12
factor receptor
12
receptor associated
8
associated periodic
8
periodic syndrome
8
syndrome traps
8
tumor necrosis
8
tnfr1 gene
8
[tumor necrosis
4
traps report
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!