| Abstract | 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. |
| Authors | Manuel Alvarez-Lobos, Bessie Hunter, Colomba Cofré, Carlos Benítez, Eduardo Talesnik, Mauricio Oyarzo, Juan I Aróstegui, Jordi Yagüe
(Affiliation: Departamento de Gastroenterología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago de Chile. alvarezl at med.puc.cl)
|
| Journal | Revista médica de Chile
(Rev Med Chil)
Vol. 134
Issue 12
Pg. 1558-61
(Dec 2006)
ISSN: 0034-9887 Chile |
| Vernacular Title | TRAPS, un síndrome autoinflamatorio. Casos cínicos. |
| PMID | 17277873
(Publication Type: Case Reports, English Abstract, Journal Article)
|
| Chemical References |
- Receptors, Tumor Necrosis Factor, Type I
|
| Topics |
- Adolescent
- Adult
- Familial Mediterranean Fever
(drug therapy, genetics, pathology)
- Female
- Haplotypes
(genetics)
- Humans
- Male
- Mutation
(genetics)
- Receptors, Tumor Necrosis Factor, Type I
(genetics)
- Syndrome
|
