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Abstract：
Birt-Hogg-Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean Health Insurance Review and Assessment service.
Patients with BHD syndrome who had the following criteria were included: 1) tested for folliculin gene mutation, and 2) had at least one of the conditions: other specified malformation syndromes, fibrofolliculoma, acrochordon, lung cyst, cancer, and pneumothorax based on International Classification of Disease-10 code.
We found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 107 population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course.
The prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.
Patients with BHD syndrome who had the following criteria were included: 1) tested for folliculin gene mutation, and 2) had at least one of the conditions: other specified malformation syndromes, fibrofolliculoma, acrochordon, lung cyst, cancer, and pneumothorax based on International Classification of Disease-10 code.
We found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 107 population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course.
The prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.
摘要：
Birt-Hogg-Dubé（BHD）综合征是一种异常肺部疾病，患病率和发病率尚不清楚。我们的研究旨在通过使用韩国健康保险审查和评估服务的全国索赔数据来确定BHD综合征的流行病学和临床特征。
纳入符合以下标准的BHD综合征患者：1）检测Foliculin基因突变，和2）至少有一种情况：其他指定的畸形综合征，纤维囊瘤,acrochordon,肺囊肿,癌症,和气胸基于国际疾病分类-10代码。
从2017年到2019年，我们发现26例BHD综合征患者。BHD综合征的患病率为每107人5.67,没有高峰年龄。在发病病例中，诊断年龄中位数为51岁,女性略多于男性（n=15，57.7%）。超过一半的患者（n=14，53.8%）经历气胸，10例（38.5％）在临床过程中发生了恶性肿瘤。
韩国的BHD综合征患病率极低。然而,受影响的患者表现出几种合并症，包括恶性肿瘤和重复性气胸。
纳入符合以下标准的BHD综合征患者：1）检测Foliculin基因突变，和2）至少有一种情况：其他指定的畸形综合征，纤维囊瘤,acrochordon,肺囊肿,癌症,和气胸基于国际疾病分类-10代码。
从2017年到2019年，我们发现26例BHD综合征患者。BHD综合征的患病率为每107人5.67,没有高峰年龄。在发病病例中，诊断年龄中位数为51岁,女性略多于男性（n=15，57.7%）。超过一半的患者（n=14，53.8%）经历气胸，10例（38.5％）在临床过程中发生了恶性肿瘤。
韩国的BHD综合征患病率极低。然而,受影响的患者表现出几种合并症，包括恶性肿瘤和重复性气胸。
