Miao Jinrui, Gao Qian, Wang Zilin, Hou Gang
Department of Pulmonary and Critical Care Medicine The Second Affiliated Hospital of Harbin Medical University, Harbin Medical University Harbin China.
National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine China-Japan Friendship Hospital Beijing China.
Respirol Case Rep. 2024 Mar 7;12(3):e01319. doi: 10.1002/rcr2.1319. eCollection 2024 Mar.
Birt-Hogg-Dubé syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the gene, mapped to chromosome 17p11.2. Typical manifestations include pulmonary cysts, spontaneous pneumothorax, fibrofolliculomas, and kidney neoplasms. This report details the case of a 56-year-old female non-smoker diagnosed with multiple pulmonary cysts, presenting with a history of recurrent spontaneous pneumothorax. A computed tomography (CT) scan of her daughter revealed similar pulmonary cysts, raising suspicion of BHD. Further abdominal enhanced CT revealed a left renal tumour and cutaneous fibrofolliculomas on her daughter's neck. Consequently, whole-exome sequencing confirmed an germline mutation in the patient and three relatives, establishing a diagnosis of BHD. This case highlights the importance of familial pulmonary cysts as a clue for diagnosing BHD, providing crucial insights into comparable clinical presentations.
Birt-Hogg-Dubé综合征（BHD）是一种常染色体显性遗传病，由位于17号染色体短臂11.2区的基因种系突变引起。典型表现包括肺囊肿、自发性气胸、纤维毛囊瘤和肾肿瘤。本报告详细介绍了一名56岁不吸烟女性的病例，该患者被诊断为多发性肺囊肿，有复发性自发性气胸病史。对其女儿进行的计算机断层扫描（CT）显示有类似的肺囊肿，这引发了对BHD的怀疑。进一步的腹部增强CT显示其女儿左肾有肿瘤，颈部有皮肤纤维毛囊瘤。因此，全外显子组测序证实患者及其三名亲属存在种系突变，从而确诊为BHD。该病例强调了家族性肺囊肿作为诊断BHD线索的重要性，为类似临床表现提供了关键见解。
