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Article in Japanese
Abstract
Case Report
A case of Birt-Hogg-Dubé syndrome with diagnose based on a family history of pneumothorax
Toru Yamagishi Norio Kodaka Yoshiyuki Kurose Chihiro Nakano Takeshi Oshio Hiroto Matsuse
Division of Respiratory Medicine, Department of Internal Medicine, Toho University, Ohashi Medical Center
ABSTRACT
A 70-year-old man visited our hospital because of multiple pulmonary cysts, which were found by chest CT during examination of his abdominal pain. He had no history of pneumothorax, skin lesions, or renal tumor. Based on a history of pneumothorax in his sister and the characteristic feature of his pulmonary cysts, folliculin genotyping was performed, and he was finally confirmed as Birt-Hogg-Dubé syndrome. Early diagnosis of this syndrome could result in an early diagnosis of renal tumor not only in patients, but also in their families. Thus it is important to consider Birt-Hogg-Dubé syndrome in a patient with a family history of pneumothorax, even when the patient has no history of it.
KEYWORDS
Birt-Hogg-Dubé syndrome Pulmonary cyst Pneumothorax
Received 5 Aug 2016 ／ Accepted 31 Oct 2016
AJRS, 6(2): 74-77, 2017
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