Minnis P, Riddell P, Keane M P
Dept. of Respiratory Medicine, St Vincent's University Hospital and School of Medicine and Medical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin, 4, Ireland.
Respir Med Case Rep. 2016 May 29;18:90-2. doi: 10.1016/j.rmcr.2016.05.007. eCollection 2016.
Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications.
Birt-Hogg-Dubé综合征于1977年首次被描述，是一种常染色体显性遗传性疾病，其特征为肺部基底囊肿，常导致气胸、肾肿瘤和皮肤受累。高达90%的患者存在肺囊肿，其气胸风险比正常人群高50倍。我们在此描述一例在90岁时被诊断出的Birt-Hogg-Dubé综合征病例，并讨论其影像学表现和临床意义。
