中华医学杂志
2024年 · 第104卷第12期
中华医学杂志
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- 标准与规范
- 临床研究
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The patient, a 60-year-old female, went to the outpatient department of respiratory and critical care medicine of Peking Union Medical College Hospital for "intermittent shortness of breath for 1 month". In the past month, there was intermittent shortness of breath, no obvious cough, sputum, and no fever; Spontaneous pneumothorax occurred three times in the past 5 years, and there was no history of chronic diseases such as hypertension and diabetes. There are 4 siblings, and the older brother has a history of pneumothorax. CT of the patient's outpatient chest showed multiple thin-walled cystic translucent shadows of different sizes in both lungs (Figures 1, 2), irregular shapes (round, oval and flat shapes can be seen), partially fused, mainly distributed in the middle and lower lungs and the base of both lungs, adjacent to the mediastinum subpleura. Considering the possibility of diagnosis of Birt-Hogg-Dubé syndrome (BHD) syndrome, the diagnosis of BHD syndrome was confirmed after whole exon sequencing of peripheral blood: there is a heterozygous deletion variation of about 2 kb in the copy number of chromosome 17p11.2 region: mainly involving exon 45 of FLCN gene and its adjacent introns. Ultrasound of the urinary tract: small cyst of the left kidney. BHD syndrome is a rare autosomal dominant hereditary disorder characterized by diffuse saccular lesions of the lungs, spontaneous pneumothorax, cutaneous fibropilofolliculoma or trichoma, and kidney tumors; At present, there is no effective treatment for pulmonary cystic lesions, and it is necessary to avoid long-distance flights, breath-holding and weight-bearing in order to reduce the occurrence of spontaneous pneumothorax. In this case, the patient had repeated spontaneous pneumothorax and multiple vesicles with heterogeneous size and shape distributed near the pleura in both lungs. Combined with genetic testing, BHD syndrome was diagnosed.
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