Abstract：
Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.
After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. We retrospectively analyzed the data of consecutive patients with BHDS encountered from inception to December 2021.
There were 1, 1, 15, 12 and 21 cases with BHDS diagnosed from year 2017 to 2021, respectively. All 50 patients (34 women) were of Han race with a mean age of 47.4 years. The common manifestations were pulmonary cysts (98%), pneumothorax (54%) and skin lesions (68%). Renal cancer was detected in two patients and renal angiomyolipoma in four other patients. The main presentations leading to diagnosis were pneumothorax (42%), family screening (36%), and lung cysts identified on radiologic imaging (20%). The average delay in diagnosis was 8.3 years, and 4.7 years in patients with only pulmonary cysts. The most frequent pathogenic variant was c.1285del/dup on exon 11 (23%) among 44 patients confirmed by genetic testing. Renal cancer has not been found on follow-up surveillance thus far.
Increasing number of patients with BHDS are being recognized in China, facilitated by establishment of a Rare Lung Disease Clinic. Pulmonary cysts and pneumothorax were commonly encountered features, but skin lesions appeared to be more prevalent in Chinese subjects than previously reported in other Asian countries.
After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. We retrospectively analyzed the data of consecutive patients with BHDS encountered from inception to December 2021.
There were 1, 1, 15, 12 and 21 cases with BHDS diagnosed from year 2017 to 2021, respectively. All 50 patients (34 women) were of Han race with a mean age of 47.4 years. The common manifestations were pulmonary cysts (98%), pneumothorax (54%) and skin lesions (68%). Renal cancer was detected in two patients and renal angiomyolipoma in four other patients. The main presentations leading to diagnosis were pneumothorax (42%), family screening (36%), and lung cysts identified on radiologic imaging (20%). The average delay in diagnosis was 8.3 years, and 4.7 years in patients with only pulmonary cysts. The most frequent pathogenic variant was c.1285del/dup on exon 11 (23%) among 44 patients confirmed by genetic testing. Renal cancer has not been found on follow-up surveillance thus far.
Increasing number of patients with BHDS are being recognized in China, facilitated by establishment of a Rare Lung Disease Clinic. Pulmonary cysts and pneumothorax were commonly encountered features, but skin lesions appeared to be more prevalent in Chinese subjects than previously reported in other Asian countries.
摘要：
在中国，罕见病的诊断仍然是一个挑战。我们描述了最近在中国成立的罕见肺病诊所遇到的Birt-Hogg-Dubé综合征（BHDS）的经验。
在2017年获得首例BHDS患者的认可后，成立了一个由多学科专家组成的罕见肺病诊所。我们回顾性分析了从开始到2021年12月遇到的连续BHDS患者的数据。
从2017年到2021年，分别有1、1、15、12和21例BHDS诊断。所有50名患者（34名女性）均为汉族，平均年龄为47.4岁。常见表现为肺囊肿（98%），气胸（54％）和皮肤病变（68％）。在两名患者中检测到肾癌，在另外四名患者中检测到肾血管平滑肌脂肪瘤。导致诊断的主要表现是气胸（42％），家庭筛查（36%），和影像学检查发现的肺囊肿（20％）。诊断平均延迟8.3年,只有肺囊肿的患者为4.7年。在通过基因检测确认的44例患者中，最常见的致病变异是外显子11的c.1285del/dup（23％）。到目前为止，在随访监测中尚未发现肾癌。
越来越多的BHDS患者在中国得到认可，通过建立一个罕见的肺病诊所。肺囊肿和气胸是常见的特征，但中国受试者的皮肤病变似乎比以前报道的其他亚洲国家更普遍。
在2017年获得首例BHDS患者的认可后，成立了一个由多学科专家组成的罕见肺病诊所。我们回顾性分析了从开始到2021年12月遇到的连续BHDS患者的数据。
从2017年到2021年，分别有1、1、15、12和21例BHDS诊断。所有50名患者（34名女性）均为汉族，平均年龄为47.4岁。常见表现为肺囊肿（98%），气胸（54％）和皮肤病变（68％）。在两名患者中检测到肾癌，在另外四名患者中检测到肾血管平滑肌脂肪瘤。导致诊断的主要表现是气胸（42％），家庭筛查（36%），和影像学检查发现的肺囊肿（20％）。诊断平均延迟8.3年,只有肺囊肿的患者为4.7年。在通过基因检测确认的44例患者中，最常见的致病变异是外显子11的c.1285del/dup（23％）。到目前为止，在随访监测中尚未发现肾癌。
越来越多的BHDS患者在中国得到认可，通过建立一个罕见的肺病诊所。肺囊肿和气胸是常见的特征，但中国受试者的皮肤病变似乎比以前报道的其他亚洲国家更普遍。
