Takegahara Kyoshiro, Yoshino Naoyuki, Usuda Jitsuo
Department of Thoracic Surgery, Nippon Medical School Tama Nagayama Hospital, Tama, Tokyo, Japan.
Department of Thoracic Surgery, Nippon Medical School Hospital, Tokyo, Japan.
Ann Thorac Cardiovasc Surg. 2017 Dec 20;23(6):309-312. doi: 10.5761/atcs.cr.16-00295. Epub 2017 Jul 10.
Birt-Hogg-Dubé syndrome is an autosomal dominant genetic disorder characterized by a triad of skin tumors, renal tumors, and multiple pulmonary cysts. Our patient was a 40-year-old man with a history of recurrent bilateral pneumothorax and a family history of pneumothorax. The patient visited our department with chest pain and was diagnosed with left pneumothorax based on a chest X-ray. Thoracic computed tomography (CT) showed multiple cysts in both lungs. We performed thoracoscopic bilateral bullectomy with curative intent. Intraoperative observation showed numerous cysts in the lung apex, interlobular region, and mediastinum. We resected the cysts that we suspected to be responsible for the symptoms and ligated the lesions, and then performed total pleural covering. After surgery, genetic testing was performed. The result enabled us to diagnose Birt-Hogg-Dubé syndrome in this patient. Although the patient has developed neither recurrent pneumothorax nor any renal tumors, to date, long-term monitoring is necessary.
Birt-Hogg-Dubé综合征是一种常染色体显性遗传病，其特征为皮肤肿瘤、肾肿瘤和多发性肺囊肿三联征。我们的患者是一名40岁男性，有复发性双侧气胸病史，且有气胸家族史。该患者因胸痛前来我院就诊，胸部X线检查诊断为左侧气胸。胸部计算机断层扫描（CT）显示双肺有多个囊肿。我们进行了胸腔镜双侧肺大疱切除术，目的是治愈疾病。术中观察发现肺尖、小叶间区域和纵隔有大量囊肿。我们切除了怀疑导致症状的囊肿并结扎病变，然后进行了全胸膜覆盖。术后进行了基因检测。检测结果使我们能够诊断该患者患有Birt-Hogg-Dubé综合征。尽管该患者至今既未出现复发性气胸，也未出现任何肾肿瘤，但仍需要长期监测。
