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Genetic risk factors for spontaneous pneumothorax in Birt-Hogg-Dubé syndrome

Chest Feb 23, 2020

Sattler EC, et al. - Researchers undertook this analysis utilizing clinical data from 197 patients with Birt-Hogg-Dubé syndrome (BHDS) belonging to 63 unrelated families, to examine nonenvironmental risk factors for pneumothorax in a large group of patients suffering from BHDS, including 103 male patients and 94 female patients. Findings revealed significant disparities for the spontaneous pneumothorax risk concerning both age and gender in these patients. Significantly older age at the time of occurrence was noted in patients who had only a single spontaneous pneumothorax vs those with multiple pneumothoraces. Following the second event, a drastic rise in the risk for three or more pneumothoraces was noted. Two FLCN mutations that displayed a link with significantly increased pneumothorax risk were identified: c.1300G>C and c.250-2A>G. Therefore, previously unexplored individual predictors have been recognized that afford improved risk stratification for patients with BHDS.
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