冷热蛋白相关周期性综合征 (CAPS) 的诊断和治疗：我们今天知道什么？,Journal of Clinical Medicine

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冷热蛋白相关周期性综合征 (CAPS) 的诊断和治疗：我们今天知道什么？
Journal of Clinical Medicine ( IF 3.0 ) Pub Date : 2021-01-01 , DOI: 10.3390/jcm10010128
Tatjana Welzel _{1,

2} , Jasmin B Kuemmerle-Deschner ₁

Affiliation

冷热蛋白相关周期性综合征 (CAPS) 通常是由杂合NLRP3基因变异引起，导致炎症体过度激活，随后白细胞介素 (IL)-1β 过量产生。CAPS 谱包括轻度、中度和重度表型。轻度表型称为家族性寒冷性自身炎症综合征（FCAS），中度表型也称为穆克尔-韦尔斯综合征（MWS），新生儿发病的多系统炎症性疾病（NOMID）/慢性婴儿神经性皮肤关节综合征（CINCA）描述严重的表型。CAPS 表型表现出非特异性和独特的临床症状。皮肤病、肌肉骨骼、眼科、耳科和神经系统疾病症状以及慢性全身炎症是其特征。然而，CAPS 诊断具有挑战性，因为一些患者表现出异质的多系统临床表现，并且遗传变异的范围不断扩大。体细胞嵌合体和低外显率变异导致非典型的临床症状和病程。为了避免发病并降低死亡率，早期诊断至关重要，并且应尽快开始靶向抗 IL-1 治疗。此外，持续、精确地监测疾病活动、器官损伤和健康相关的生活质量也很重要。本综述总结了当前 CAPS 患者诊断和治疗的证据。

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Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous NLRP3 gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate phenotype is also known as Muckle–Wells syndrome (MWS), and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA) describes the severe phenotype. The CAPS phenotypes display unspecific and unique clinical signs. Dermatologic, musculoskeletal, ocular, otologic, and neurologic disease symptoms combined with chronic systemic inflammation are characteristic. Nevertheless, making the CAPS diagnosis is challenging as several patients show a heterogeneous multi-system clinical presentation and the spectrum of genetic variants is growing. Somatic mosaicisms and low-penetrance variants lead to atypical clinical symptoms and disease courses. To avoid morbidity and to reduce mortality, early diagnosis is crucial, and a targeted anti-IL-1 therapy should be started as soon as possible. Furthermore, continuous and precise monitoring of disease activity, organ damage, and health-related quality of life is important. This review summarizes the current evidence in diagnosis and management of patients with CAPS.

更新日期：2021-01-01

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