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Review
. 2019 Apr 12;42(4):284-286.
doi: 10.3760/j.issn.1001-0939.2019.04.009.

[Birt-Hogg-Dubé syndrome: a hereditary pulmonary cystic disease]

[Article in Chinese]
W S Xu, X L Tian, Y L Yang, K F Xu
Review

[Birt-Hogg-Dubé syndrome: a hereditary pulmonary cystic disease]

[Article in Chinese]
W S Xu et al. Zhonghua Jie He He Hu Xi Za Zhi. .

Abstract

Birt-Hogg-Dubé综合征（Birt-Hogg-Dubé, BHD）是一种罕见的以肺部囊状改变、皮肤良性肿瘤及多种类型的肾脏肿瘤为特征的常染色体显性遗传病，第17号染色体的FLCN基因突变与BHD综合征的发生相关。BHD综合征主要应与弥漫性囊性肺部疾病相鉴别；出现多发或弥漫性肺大疱、自发性气胸、家族性发病的肺大疱或气胸等情况时需要提高诊断意识。本综述介绍BHD综合征的临床特征、诊断与鉴别诊断、遗传特征、治疗与随访等，以提高对BHD综合征的认识。.

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