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

Chest Jan 25, 2020

Sattler EC, et al. - Researchers focused on defining non-environmental risk factors for pneumothorax in a large population of Birt-Hogg-Dubé syndrome (BHDS) patients. They analyzed data from 197 BHDS patients, including 103 males and 94 females, belonging to 63 unrelated families. They found that patients who had only a single spontaneous pneumothorax vs those with multiple ones exhibited significantly older at the time of occurrence. Following the second event, a drastic rise in the risk for three or more pneumothoraces was reported. For mutations, c.1300G>C and c.250-2A>G vs FLCN hotspot mutation c.1285dup, significantly increased pneumothorax risks were observed. As far as spontaneous pneumothorax risk in BHDS patients was concerned, experts found significant differences concerning both age and gender. Therefore, previously undiscovered individual predictors have been recognized that affords improved risk stratification for BHDS patients.
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