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

W S Xu; X L Tian; Y L Yang; K F Xu

doi:10.3760/j.issn.1001-0939.2019.04.009

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

Zhonghua Jie He He Hu Xi Za Zhi. 2019 Apr 12;42(4):284-286. doi: 10.3760/j.issn.1001-0939.2019.04.009.

[Article in Chinese]

Authors

W S Xu, X L Tian, Y L Yang, K F Xu

PMID: 30955287
DOI: 10.3760/j.issn.1001-0939.2019.04.009

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。.

Publication types

Review

MeSH terms

Birt-Hogg-Dube Syndrome / complications
Birt-Hogg-Dube Syndrome / genetics*
Cysts / etiology
Cysts / genetics*
Humans
Lung Diseases / etiology
Lung Diseases / genetics*