Jensen Dea Kejlberg, Villumsen Anders, Skytte Anne-Bine, Madsen Mia Gebauer, Sommerlund Mette, Bendstrup Elisabeth
Department of Respiratory Diseases and Allergy, Aarhus University Hospital , Aarhus , Denmark.
Institute of Clinical Medicine, Aarhus University , Aarhus , Denmark.
Eur Clin Respir J. 2017 Feb 20;4(1):1292378. doi: 10.1080/20018525.2017.1292378. eCollection 2017.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies. Literature review and case story. A PubMed and Embase search identified 330 papers. BHDS is characterized by small benign tumors in the skin, spontaneous pneumothoraces caused by cysts in the lungs and a seven-fold increased risk of renal cancer. A case story of a young female patient presenting with pneumothorax and a family history of recurrent pneumothoraces in many relatives illustrates how the history and the diagnostic work up resulted in a diagnosis of BHDS. BHDS is a rare inherited disorder. In patients with spontaneous pneumothorax or cystic lung disease without any obvious explanation, BHDS should be considered. Concomitant skin manifestations, a family history of familiar pneumothorax, renal cancers and skin manifestations supports the suspicion of BHDS. Early diagnosis is important in order to subject patients to systematic screening for renal cancers. A radiological surveillance strategy for renal cancer is proposed.
Birt-Hogg-Dubé综合征（BHDS）是一种由卵泡抑素编码基因（FLCN）突变引起的罕见常染色体显性遗传综合征。该综合征的临床表现涉及皮肤、肺和肾脏。由于该综合征较为罕见，目前缺乏针对BHDS患者的诊断和管理指南。本文旨在通过病例报告及文献综述，对BHDS的遗传学、临床表现、诊断、治疗、预后及随访策略进行更新。采用文献综述及病例报告的方法。通过检索PubMed和Embase数据库，共筛选出330篇文献。BHDS的特征包括皮肤的小良性肿瘤、肺部囊肿导致的自发性气胸以及肾癌风险增加7倍。一名年轻女性患者出现气胸，且家族中有多位亲属有复发性气胸病史，该病例说明了病史及诊断检查如何最终确诊为BHDS。BHDS是一种罕见的遗传性疾病。对于不明原因的自发性气胸或囊性肺疾病患者，应考虑BHDS。同时出现皮肤表现、家族性气胸病史、肾癌及皮肤表现，支持BHDS的疑似诊断。早期诊断对于患者接受肾癌系统筛查至关重要。本文提出了一种针对肾癌的放射学监测策略。
