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Birt-Hogg-Dubé(BHD)综合征研究

瑾瑞 苗(内蒙古医科大学,中国)
纪元 陈(广州医科大学,中国)
德俊 孙(国家卫健委慢阻肺诊治重点实验室,中国;内蒙古自治区呼吸疾病重点实验室,中国;内蒙古自治区人民医院,中国)

摘要

Birt-Hogg-Dubé Syndrome(BHD综合征)是一种以肺囊肿、自发性气胸、双侧多灶性肾肿瘤和皮肤毛囊纤维瘤为特征的常染色体显性遗传疾病。BHD综合征是由FLCN基因的种系突变引起的,参与AMPK和mTOR的信号转导。在亚洲人群中,自发性气胸是BHD综合征最早、最常出现的症状。临床诊断BHD综合征最可靠的方法是FLCN基因的遗传检测。论文对BHD综合征的临床表现、遗传机制和治疗的进展进行综述,为后续基础和临床研究提供参考。

关键词

BHD综合征;FLCN;自发性气胸

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参考

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v5i2.11303

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