PDF(Pubmed)
Abstract：
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early diagnoses of BHD challenging.
METHODS: A 51-year-old female was admitted to Shanghai Seventh People Hospital due to chest congestion and dyspnea that had persisted for 3 years and aggravated for 1 month. She had been diagnosed with pneumothorax prior to this submission, but the etiology was unknown.
METHODS: Chest computed tomography (CT) revealed multiple pulmonary cysts and pneumothorax, and her family members shared similar manifestation. Whole-exome sequencing analysis indicated a heterozygous FLCN splicing mutation (c.1432 + 1G > A; rs755959303), which was a pathogenic variant indicated in ClinVar. Based on FLCN mutation and the family history of pulmonary cysts and pneumothorax, BHD syndrome was finally diagnosed, which had been delayed for 3 years since her first pneumothorax.
METHODS: Pulmonary bullectomy and pleurodesis were finally conducted due to the poor effects of thoracic close drainage.
RESULTS: Her pneumothorax was resolved, and no recurrence was found in 2 years.
CONCLUSIONS: Our study highlights the importance of genetic analysis in diagnosis and clinical management of BHD syndrome.
METHODS: A 51-year-old female was admitted to Shanghai Seventh People Hospital due to chest congestion and dyspnea that had persisted for 3 years and aggravated for 1 month. She had been diagnosed with pneumothorax prior to this submission, but the etiology was unknown.
METHODS: Chest computed tomography (CT) revealed multiple pulmonary cysts and pneumothorax, and her family members shared similar manifestation. Whole-exome sequencing analysis indicated a heterozygous FLCN splicing mutation (c.1432 + 1G > A; rs755959303), which was a pathogenic variant indicated in ClinVar. Based on FLCN mutation and the family history of pulmonary cysts and pneumothorax, BHD syndrome was finally diagnosed, which had been delayed for 3 years since her first pneumothorax.
METHODS: Pulmonary bullectomy and pleurodesis were finally conducted due to the poor effects of thoracic close drainage.
RESULTS: Her pneumothorax was resolved, and no recurrence was found in 2 years.
CONCLUSIONS: Our study highlights the importance of genetic analysis in diagnosis and clinical management of BHD syndrome.
摘要：
背景：Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体隐性遗传障碍，主要由肿瘤抑制基因FLCN的突变引起。由FLCN突变引起的肿瘤通常是良性的，并且在皮肤中发展。肺,肾,和其他器官，导致各种表型，使BHD的早期诊断具有挑战性。
方法：上海市第七人民医院一名51岁女性患者因胸闷、呼吸困难，持续3年，加重1个月。在提交之前，她被诊断出患有气胸，但病因不明.
方法：胸部计算机断层扫描（CT）显示多发肺囊肿和气胸，她的家人也有类似的表现。全外显子组测序分析表明存在杂合的FLCN剪接突变(c.1432+1G>A;rs755959303),这是ClinVar指出的一种致病变异。根据FLCN突变和肺囊肿和气胸的家族史，BHD综合征最终被诊断出来,自从她第一次气胸以来，这已经推迟了3年。
方法：由于胸腔闭式引流效果不佳，最终进行肺大泡切除和胸膜固定术。
结果：气胸已消退，2年内无复发。
结论：我们的研究强调了基因分析在BHD综合征诊断和临床治疗中的重要性。
方法：上海市第七人民医院一名51岁女性患者因胸闷、呼吸困难，持续3年，加重1个月。在提交之前，她被诊断出患有气胸，但病因不明.
方法：胸部计算机断层扫描（CT）显示多发肺囊肿和气胸，她的家人也有类似的表现。全外显子组测序分析表明存在杂合的FLCN剪接突变(c.1432+1G>A;rs755959303),这是ClinVar指出的一种致病变异。根据FLCN突变和肺囊肿和气胸的家族史，BHD综合征最终被诊断出来,自从她第一次气胸以来，这已经推迟了3年。
方法：由于胸腔闭式引流效果不佳，最终进行肺大泡切除和胸膜固定术。
结果：气胸已消退，2年内无复发。
结论：我们的研究强调了基因分析在BHD综合征诊断和临床治疗中的重要性。
