PDF(Pubmed)
Abstract：
UNASSIGNED: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected. BHD syndrome is diagnosed in patients with negative FLCN gene results using diagnostic criteria.
UNASSIGNED: A male in his 20s presented with recurrent pneumothoraces. A physical examination revealed bumps on his face and upper body. A chest computed tomography scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having a negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome.
UNASSIGNED: More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having a negative genetic analysis. One study in Japan found 16 out of 157 individuals having a clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD.
UNASSIGNED: BHD syndrome can present with a negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, a qualitative decrease of FLCN with the absence of mutations may also lead to BHD.
UNASSIGNED: A male in his 20s presented with recurrent pneumothoraces. A physical examination revealed bumps on his face and upper body. A chest computed tomography scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having a negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome.
UNASSIGNED: More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having a negative genetic analysis. One study in Japan found 16 out of 157 individuals having a clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD.
UNASSIGNED: BHD syndrome can present with a negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, a qualitative decrease of FLCN with the absence of mutations may also lead to BHD.
摘要：
■Birt-Hogg-Dube（BHD）是一种罕见的遗传性疾病，由Folliculin（FLCN）基因突变引起。表现包括肺囊肿，纤维瘤，肾肿瘤,和气胸。当怀疑时，基因检测可用于确认诊断。使用诊断标准在FLCN基因结果阴性的患者中诊断为BHD综合征。
■一名20多岁的男性出现复发性气胸。体检发现他的脸和上身有肿块。胸部计算机断层扫描显示囊性病变。验血,ESR,CRP水平无明显变化。穿刺皮肤活检显示纤维囊瘤。FLCN突变基因检测结果为阴性。他的历史,体检,成像,尽管有阴性家族史和遗传分析，但组织病理学提示BHD综合征。最终,患者被诊断为FLCN基因阴性BHD综合征.
■在全球范围内已确定有一百多个家庭患有BHD。文献中有少数病例描述了尽管具有阴性遗传分析但表型上呈现BHD的患者。日本的一项研究发现，157名患者中有16名患有BHD的临床表现，没有突变。此外，FLCNmRNA表达降低可能导致BHD。
■BHD综合征可以表现为阴性的FLCN基因突变；然而，患者必须符合已知的诊断标准,如Menko等人制定的诊断标准.,Guptaetal.,和施密特等人。为了诊断出BHD综合征。此外，无突变的FLCN定性降低也可能导致BHD.
■一名20多岁的男性出现复发性气胸。体检发现他的脸和上身有肿块。胸部计算机断层扫描显示囊性病变。验血,ESR,CRP水平无明显变化。穿刺皮肤活检显示纤维囊瘤。FLCN突变基因检测结果为阴性。他的历史,体检,成像,尽管有阴性家族史和遗传分析，但组织病理学提示BHD综合征。最终,患者被诊断为FLCN基因阴性BHD综合征.
■在全球范围内已确定有一百多个家庭患有BHD。文献中有少数病例描述了尽管具有阴性遗传分析但表型上呈现BHD的患者。日本的一项研究发现，157名患者中有16名患有BHD的临床表现，没有突变。此外，FLCNmRNA表达降低可能导致BHD。
■BHD综合征可以表现为阴性的FLCN基因突变；然而，患者必须符合已知的诊断标准,如Menko等人制定的诊断标准.,Guptaetal.,和施密特等人。为了诊断出BHD综合征。此外，无突变的FLCN定性降低也可能导致BHD.
