Ishii Hiroshi, Oka Hiroaki, Amemiya Yuka, Iwata Atsuko, Otani Satoshi, Kishi Kenji, Shirai Ryo, Tokimatsu Issei, Kawahara Katsunobu, Kadota Jun-ichi
Department of Internal Medicine II, Oita University Faculty of Medicine, Yufu.
Intern Med. 2009;48(16):1413-7. doi: 10.2169/internalmedicine.48.2144. Epub 2009 Aug 17.
We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.
我们在此报告一个可能患有Birt-Hogg-Dubé（BHD）综合征的日本家族谱系。一名29岁的不吸烟女性因自发性气胸入院。胸部CT显示多个肺囊肿，同时检测出需要优先进行手术治疗的乳腺癌。在家族史中，患者的父亲和同父异母的哥哥也经历过复发性气胸，两人的胸部CT检查结果相似。对她同父异母哥哥的基因分析发现了BHD基因突变。BHD综合征是一种罕见的常染色体显性遗传疾病，具有三个特征：可能与气胸相关的多个肺囊肿、皮肤纤维毛囊瘤和肾肿瘤。对于病因不明的肺部多囊性疾病或家族史中出现的气胸，有必要考虑BHD综合征的可能性。
