TRAPS, un síndrome autoinflamatorio: Casos cínicos / Tumor necrosis factor receptor associated periodic syndrome (TRAPS): Report of two cases
Rev. méd. Chile
;
134(12): 1558-1561, dic. 2006. ilus, tab
Article
in Spanish
| LILACS
| ID: lil-441435
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Familial Mediterranean Fever
/
Receptors, Tumor Necrosis Factor, Type I
/
Mutation
Type of study:
Risk factors
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2006
Type:
Article
Affiliation country:
Chile
/
Spain
Institution/Affiliation country:
Hospital Clínico de Barcelona/ES
/
Hospital Luis Calvo Mackenna/CL
/
Pontificia Universidad Católica de Chile/CL
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