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

被引:0
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作者
Alvarez-Lobos, Manuel
Hunter, Bessie
Cofre, Colomba
Benitez, Carlos
Talesnik, Eduardo
Oyarzo, Mauricio
Arostegui, Juan I.
Yague, Jordi
机构
[1] Pontificia Univ Catolica Chile, Dept Gastroenterol, Escuela Med, Santiago, Chile
[2] Pontificia Univ Catolica Chile, Hosp Luis Calvo Mackenna, Gastroenterol Serv, Escuela Med, Santiago, Chile
[3] Pontificia Univ Catolica Chile, Dept Reumatol, Escuela Med, Santiago, Chile
[4] Pontificia Univ Catolica Chile, Dept Anat Patol, Escuela Med, Santiago, Chile
[5] Hosp Clin Barcelona, Dept Immunol, Barcelona, Spain
关键词
amyloidosis; cytogenetic analysis; receptors; Tumor Necrosis Factor; type I;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 rise of corticosteroids or anti-TAT antibodies. We report a 17 year old male and 23 year old female with the syndrome. Both cases bad heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.
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页码:1558 / 1561
页数:4
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