Calvo Rey C, Soler-Palacín P, Merino Muñoz R, Saavedra Lozano J, Antón López J, Aróstegui J I, Blázquez Gamero D, Martín-Nalda A, Juan M, Méndez M, Piñeiro Perez R, Calvo I
Sociedad Española de Infectología Pediátrica, and Sociedad Española de Reumatología Pediátrica, Spain.
An Pediatr (Barc). 2011 Mar;74(3):194.e1-16. doi: 10.1016/j.anpedi.2010.09.022. Epub 2010 Dec 18.
Recurrent fever is a relatively common problem during childhood. Diagnosis is often easy and related to mild viral infections. However a small proportion of these cases originate from an underlying non-infectious process that is generally difficult to diagnose. In this paper we describe the differential diagnosis of recurrent or periodic fever versus other processes, with especial attention to autoinflammatory disorders (AD). AD are alterations of innate immunity, and they have been recently classified as an immunodeficiency. Anyhow, since infections are not present, these processes are different to the classic primary immunodeficiency. An important part of AD is of known genetic aetiology. The symptoms originate from an underlying inflammatory process and can have different clinical expressions. One of the most relevant groups is the hereditary syndromes of periodic fever. This group of diseases associates recurrent fever and several clinical symptoms with a relative periodicity, separated by intervals free or almost free of symptoms. We include the diagnostic criteria for some processes as well as the characteristics that should, eventually, lead to a genetic study. Although treatment should be individualised, we also include some general recommendations.
复发性发热是儿童期相对常见的问题。诊断通常容易,且与轻度病毒感染有关。然而,这些病例中有一小部分源于潜在的非感染性过程,通常难以诊断。在本文中,我们描述了复发性或周期性发热与其他病症的鉴别诊断,特别关注自身炎症性疾病(AD)。AD是先天性免疫的改变,最近被归类为免疫缺陷。无论如何,由于不存在感染,这些过程与经典的原发性免疫缺陷不同。AD的一个重要部分是已知的遗传病因。症状源于潜在的炎症过程,可能有不同的临床表现。最相关的一组是周期性发热的遗传性综合征。这组疾病将复发性发热和几种临床症状与相对的周期性联系起来,症状发作间隔期无症状或几乎无症状。我们列出了一些病症的诊断标准以及最终应进行基因研究的特征。虽然治疗应个体化,但我们也给出了一些一般性建议。