Alotaibi Bashayr M, Lopez Rodriguez Raquel, Garrido Carmen Venegas, Gonzalez Bravo Lucia, Khalidi Nader, Nair Parameswaran
Divisions of Respirology, Department of Medicine, McMaster University & St Joseph's Healthcare, 50 Charlton Ave East, Hamilton, ON, L8N 4A6, Canada.
Division of Pulmonary Medicine, Department of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Allergy Asthma Clin Immunol. 2023 Aug 29;19(1):76. doi: 10.1186/s13223-023-00837-9.
Respiratory conditions, such as asthma, are infrequently associated with auto-inflammatory diseases. We describe five patients with uncontrolled respiratory symptoms that were seen at St. Joesph's Healthcare in Hamilton for severe asthma management diagnosed with rare autoinflammatory conditions using genetic molecular analysis.
Five patients are included in this case series. Gene mutations associated with familial Mediterranean fever, Yao syndrome, Cryopyrin-associated periodic syndrome, and Majeed syndrome were considered to explain partly the patient's clinical manifestation after comprehensive clinical, biochemical, hematological investigations ruled out other disorders such as parasitosis, Allergic Bronchopulmonary Fungosis, Eosinophilic Granulomatosis with Poly Angitis, IgG4 disease, and Hypereosinophilia syndrome.
Complex patients initially presenting with respiratory conditions in addition to unexplained autoinflammatory conditions are a diagnostic challenge. Genetic molecular testing provides healthcare practitioners with useful information that may diagnose underlying auto-inflammatory diseases in undifferentiated patients. Role of inflammasome-activation in asthma and eosinophilia needs further investigation.
诸如哮喘等呼吸系统疾病很少与自身炎症性疾病相关。我们描述了5例在汉密尔顿圣约瑟夫医疗中心就诊的、有未得到控制的呼吸道症状的患者，他们因严重哮喘管理而接受诊治，通过基因分子分析被诊断为罕见的自身炎症性疾病。
本病例系列纳入了5例患者。在全面的临床、生化、血液学检查排除了其他疾病（如寄生虫病、变应性支气管肺真菌病、嗜酸性肉芽肿性多血管炎、IgG4疾病和高嗜酸性粒细胞综合征）后，与家族性地中海热、姚氏综合征、冷吡啉相关周期性综合征和马吉德综合征相关的基因突变被认为部分解释了患者的临床表现。
最初除了有无法解释的自身炎症性疾病外还表现出呼吸道疾病的复杂患者是一个诊断难题。基因分子检测为医疗从业者提供了有用信息，可能有助于诊断未分化患者潜在的自身炎症性疾病。炎性小体激活在哮喘和嗜酸性粒细胞增多症中的作用需要进一步研究。
