A Case of Primary Spontaneous Pneumothorax with a Three Nucleotide Deletion Mutation of the FLCN Gene.
- Author:
Geon PARK
1
;
Hong Joo SEO
;
Sook Jin JANG
;
Bong Seok SHIN
;
Ran HONG
;
Seog Ki LEE
Author Information
1. Department of Laboratory Medicine, Chosun University School of Medicine, Korea.
- Publication Type:Case Report
- Keywords:
Pneumothorax;
FLCN
- MeSH:
Blister;
Humans;
Male;
Middle Aged;
Pneumothorax;
Sequence Deletion
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2010;43(6):824-828
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.
