一般社団法人日本呼吸器学会 公式サイト
日本呼吸器学会英文誌 Respiratory Investigation
日本呼吸器学会誌 増刊号 学術講演会プログラム 抄録集

Abstract

Full Text of PDF Full Text of PDF (447k)  required ID / password
Article in Japanese

Case Report

A case of Birt-Hogg-Dubé syndrome in a patient with a three-generation family history of pneumothorax

Tsukasa Uedaa  Taro Yonedaa  Hayato Kobaa  Hiroko Moritaa  Koichi Nishib  Kazuo Kasaharac 

aDepartment of Respiratory Medicine, Komatsu Municipal Hospital
bDepartment of Respiratory Medicine, Ishikawa Prefectural Central Hospital
cDepartment of Respiratory Medicine, Kanazawa University Hospital

ABSTRACT

We present the case of an 80-year-old man with a history of pneumothorax. An abnormal shadow was observed during the course of a medical check-up, and multiple cysts were found in both lungs on the chest CT scan. The patient’s daughter and granddaughter also shared a history of pneumothorax. There were no renal tumors or skin lesions characteristic of Birt-Hogg-Dubé (BHD) syndrome, but the family history indicated BHD syndrome. A folliculin (FLCN) gene analysis revealed an insertion mutation in exon 12, and the patient was diagnosed with BHD syndrome. We report a case in which BHD syndrome was diagnosed based on family history and imaging findings from three-generations.

KEYWORDS

Birt-Hogg-Dubé (BHD) syndrome  Lung cyst  Pneumothorax  Folliculin (FLCN) gene 

Received 30 Jan 2022 / Accepted 9 Jun 2022

AJRS, 11(5): 321-326, 2022

Google Scholar