Aspectos más relevantes del síndrome periódico asociado al receptor del factor de necrosis tumoral

Revista Cubana de Hematología, Inmunología y Hemoterapia

Sánchez Segura, Miriam de la Caridad¹ 

[1] Instituto de Hematología e Inmunología, La Habana, Cuba

关键词: autoinflammatory disorders;    TRAPS;    pathogenesis;    mutations;    inflammation;    receptor.;   

DOI  :  

学科分类：生理学与病理学

来源: SciELO

【 摘 要 】

Hereditary autoinflammatory disorders are a range of heterogeneous conditions that have as a common feature the appearance of unprovoked inflammatory attacks, which may be systemic or occur in localized niches of the body. Among these are hereditary periodic fever syndrome, characterized by short and recurrent attacks of fever and severe localized inflammation, occurring periodically or irregularly and not explained by the usual infections of childhood. Tumor necrosis factor receptor-associated periodic syndrome is part of these entities and is characterized by episodes of prolonged fever, myalgias, abdominal pain, migratory cutaneous erythema, conjunctivitis and/or periorbital edema, with an autosomal dominant inheritance pattern. The most important for the diagnosis is the genetic analysis and its prognosis is determined by the appearance of amyloidosis. In 1999 its genetic basis was discovered by identifying disease-causing mutations in the gene encoding tumor necrosis factor receptor superfamily member 1A. In recent years, significant advances have been achieved in the diagnosis and treatment of this disease, thanks to a better understanding of its pathogenesis. This paper describes the most relevant aspects regarding pathogenesis, relation of mutations with the disease phenotype, clinical characteristics and treatment.

【 授权许可】

CC BY-NC-SA