PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：呼吸系统疾病，比如哮喘,很少与自身炎性疾病相关。我们描述了5例未受控制的呼吸道症状的患者，这些患者在汉密尔顿的St.Joesph'sHealthcare进行了严重哮喘管理，并使用遗传分子分析诊断为罕见的自身炎症状况。
方法：本病例系列包括5名患者。与家族性地中海热相关的基因突变，瑶族综合征,Cryopyrin相关的周期性综合征，和Majeed综合征被认为是解释部分患者的临床表现后综合临床，生物化学，血液学检查排除了其他疾病，如寄生虫病，过敏性支气管肺真菌,嗜酸性肉芽肿病合并多血管炎,IgG4病,和嗜酸性粒细胞增多综合征.
结论：最初出现呼吸疾病以及无法解释的自身炎症的复杂患者是一个诊断挑战。遗传分子检测为医疗保健从业人员提供有用的信息，可以诊断未分化患者的潜在自身炎性疾病。炎症小体激活在哮喘和嗜酸性粒细胞增多中的作用需要进一步研究。
方法：本病例系列包括5名患者。与家族性地中海热相关的基因突变，瑶族综合征,Cryopyrin相关的周期性综合征，和Majeed综合征被认为是解释部分患者的临床表现后综合临床，生物化学，血液学检查排除了其他疾病，如寄生虫病，过敏性支气管肺真菌,嗜酸性肉芽肿病合并多血管炎,IgG4病,和嗜酸性粒细胞增多综合征.
结论：最初出现呼吸疾病以及无法解释的自身炎症的复杂患者是一个诊断挑战。遗传分子检测为医疗保健从业人员提供有用的信息，可以诊断未分化患者的潜在自身炎性疾病。炎症小体激活在哮喘和嗜酸性粒细胞增多中的作用需要进一步研究。
