Service de pneumologie, Centre hospitalier universitaire vaudois, Université de Lausanne, Rue du Bugnon 46, CH-1011, Lausanne, Switzerland.
Service de pneumologie, Centre national coordinateur de référence des maladies pulmonaires rares, hôpital Louis Pradel, Hospices Civils de Lyon, Université de Lyon, Université Claude Bernard Lyon 1, UMR754 INRA, IVPC, Lyon, France.
Orphanet J Rare Dis. 2020 May 24;15(1):120. doi: 10.1186/s13023-020-01402-y.
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD.
Ninety-five percent of BHD patients had multiple pulmonary cysts on computed tomography and 59% had experienced at least one pneumothorax. Mean values of forced expiratory volume in 1 second (FEV), forced vital capacity (FVC), FEV/FVC ratio, and total lung capacity were normal at baseline. Mean (standard deviation) residual volume (RV) was moderately increased to 116 (36) %pred at baseline, and RV was elevated > 120%pred in 41% of cases. Mean (standard deviation) carbon monoxide transfer factor (DLco) was moderately decreased to 85 (18) %pred at baseline, and DLco was decreased < 80%pred in 33% of cases. When adjusted for age, gender, smoking and history of pleurodesis, lung function parameters did not significantly decline over a follow-up period of 6 years.
Cystic lung disease in BHD does not affect respiratory function at baseline except for slightly increased RV and reduced DLco. No significant deterioration of lung function occurs in BHD over a follow-up period of 6 years.
Birt-Hogg-Dubé 综合征（BHD）是一种罕见的常染色体显性遗传病，由 FLCN 基因突变引起，该基因编码滤泡素。其临床表现包括皮肤纤维毛囊瘤、肾肿瘤、多发性肺囊肿和复发性自发性气胸。BHD 患者的肺功能数据稀缺，尚不清楚肺功能是否随时间下降。我们回顾性评估了 96 例 BHD 患者的基线和随访时的肺功能。
95%的 BHD 患者 CT 显示多发性肺囊肿，59%的患者经历过至少一次气胸。第 1 秒用力呼气量（FEV）、用力肺活量（FVC）、FEV/FVC 比值和肺总量的平均值在基线时正常。平均（标准差）残气量（RV）在基线时中度增加至 116（36）%预测值，41%的病例 RV 增加>120%预测值。平均（标准差）一氧化碳转移因子（DLco）在基线时中度下降至 85（18）%预测值，33%的病例 DLco 下降<80%预测值。在校正年龄、性别、吸烟和胸膜固定术史后，肺功能参数在 6 年的随访期间没有明显下降。
BHD 中的囊性肺病除了 RV 略有增加和 DLco 降低外，不会在基线时影响呼吸功能。在 6 年的随访期间，BHD 中没有明显的肺功能恶化。
