一例以复发性气胸为表现的Birt Hogg Dube综合征病例报告。

Adhikari Nirajan, Karki Apurwa

Internal Medicine Residency Program Internal Medicine Resident (PGY-3), Chief Resident, Guthrie Robert Packer Hospital, 1 Guthrie Square Sayre, PA, 18840, USA.

Pulmonary Critical Care Medicine, Guthrie Cortland Regional Medical Center, 134 Homer Ave, Cortland, NY, 13045, USA.

Respir Med Case Rep. 2021 Jan 16;32:101340. doi: 10.1016/j.rmcr.2021.101340. eCollection 2021.

Birt Hogg Dube (BHD) syndrome, also called as Hornstein Knickenburg syndrome is a rare syndrome caused by germline mutation in the folliculin (FLCN) gene and transmitted via autosomal dominant pattern. Different phenotypes with different manifestations have been reported including, skin manifestations as fibrofolliculoma, lung manifestations as pulmonary cysts and spontaneous pneumothorax, renal manifestations as renal neoplasia and rarely colon polyps and colon cancer. We presented a case of 35-year-old female with Birt-Hogg-Dube Syndrome.

伯-霍-杜氏（Birt Hogg Dube，BHD）综合征，也称为霍恩斯坦-尼克恩堡综合征，是一种由卵泡抑素（FLCN）基因种系突变引起的罕见综合征，通过常染色体显性模式遗传。已报道了具有不同表现的不同表型，包括皮肤表现如纤维毛囊瘤、肺部表现如肺囊肿和自发性气胸、肾脏表现如肾肿瘤，以及罕见的结肠息肉和结肠癌。我们报告了一例35岁患有伯-霍-杜氏综合征的女性病例。