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首页> 外文期刊>Revista Cubana de Hematología, Inmunología y Hemoterapia >Aspectos m??s relevantes del s?-ndrome peri?3dico asociado al receptor del factor de necrosis tumoral
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Aspectos m??s relevantes del s?-ndrome peri?3dico asociado al receptor del factor de necrosis tumoral

机译：肿瘤坏死因子受体相关的周期性综合征最相关的方面

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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.
机译：遗传性自身炎性疾病是一系列异质性疾病，其共同特征是出现无缘无故的炎症性发作，这种发作可能是系统性的，也可能发生在身体的局部小生境中。其中有遗传性周期性发烧综合征，其特征是发烧短时反复发作和严重的局部炎症，周期性或不规则地发生，不能用儿童的普通感染来解释。肿瘤坏死因子受体相关的周期性综合征是这些实体的一部分，其特征是发烧时间长，肌痛，腹痛，迁移性皮肤红斑，结膜炎和/或眼眶水肿，具有常染色体显性遗传模式。对于诊断而言，最重要的是遗传分析，其预后取决于淀粉样变性病的出现。 1999年，通过鉴定编码肿瘤坏死因子受体超家族成员1A的基因中的致病突变，发现了其遗传基础。近年来，由于对该疾病的发病机理有了更好的了解，因此在该疾病的诊断和治疗方面已取得了重大进展。本文介绍了有关发病机理，突变与疾病表型的关系，临床特征和治疗方面最相关的方面。

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