儿童系统性自身炎症性疾病
Systemic autoinflammatory diseases in pediatric population.
作者信息
Marques Maria Luís, Cunha Inês Machado, Alves Sérgio, Guedes Margarida, Zilhão Carla
机构信息
Allergy and Clinical Immunology Department, Hospital da Senhora da Oliveira, Guimarães,Portugal.
Allergy and Clinical Immunology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
出版信息
Asia Pac Allergy. 2022 Jul 18;12(3):e29. doi: 10.5415/apallergy.2022.12.e29. eCollection 2022 Jul.
BACKGROUND
Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.
OBJECTIVE
We aimed to characterize the clinical features of patients with SAID.
METHODS
This study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.
RESULTS
A total of 54 patients were evaluated: 18 with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome; 16 with Behçet disease; 13 with systemic juvenile idiopathic arthritis; 4 with syndrome of undifferentiated recurrent fever; 1 with cryopyrin associated periodic syndrome; 1 with chronic nonbacterial osteomyelitis; and 1 with Muckle-Wells syndrome.
CONCLUSION
The analysis of clinical features of our patients are similar to other studies. Our goal was to aware the medical community to early recognize and treat SAID to improve quality of life of pediatric patients.
背景
系统性自身炎症性疾病（SAID）是单基因和多基因遗传性疾病，其特征是先天性免疫系统失调。
目的
我们旨在描述SAID患者的临床特征。
方法
本研究是一项回顾性图表审查，针对1998年至2020年在我们中心观察到的患有SAID的儿科人群的临床和遗传特征。
结果
共评估了54例患者：18例患有周期性发热、复发性口腔溃疡、咽炎和腺炎综合征；16例患有白塞病；13例患有全身型幼年特发性关节炎；4例患有未分化复发性发热综合征；1例患有冷吡啉相关周期性综合征；1例患有慢性非细菌性骨髓炎；1例患有穆克-韦尔斯综合征。
结论
我们患者的临床特征分析与其他研究相似。我们的目标是提醒医学界尽早识别和治疗SAID，以提高儿科患者的生活质量。
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