Cui Xiaoxian, Yu Haiqiong, Liu Hui, Zhang Jianquan
Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China.
Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China
BMJ Case Rep. 2025 Jan 21;18(1):e262510. doi: 10.1136/bcr-2024-262510.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genetic disorder. This case report aims to increase awareness of pulmonary cystic lesions and BHDS in China by providing insights into the clinical features of this syndrome. We present two cases of BHDS from the same family. We describe their clinical presentations, imaging findings, genetic mutations and the disease within their family tree. Two confirmed BHDS patients, initially presented with recurrent pneumothorax. No concurrent skin cystic changes but multiple lung cysts and gene mutation were found. Additionally, they have a family history of pneumothorax. Colorectal lesions are also noticed in their family. Remarkably, the younger sister also carried a mutation in the gene. For patients with lung cysts or pneumothorax on chest CT, it is advisable to trace the family history and remain vigilant for colorectal lesions.
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性遗传病。本病例报告旨在通过深入了解该综合征的临床特征，提高中国对肺囊性病变和BHDS的认识。我们报告了来自同一家族的两例BHDS病例。我们描述了他们的临床表现、影像学检查结果、基因突变以及家族谱系中的疾病情况。两名确诊的BHDS患者最初表现为复发性气胸。未发现并发皮肤囊性改变，但发现多个肺囊肿和基因突变。此外，他们有气胸家族史。在他们家族中还注意到有结直肠病变。值得注意的是，妹妹也携带该基因的突变。对于胸部CT显示有肺囊肿或气胸的患者，建议追溯家族史并对结直肠病变保持警惕。
