Early Detection of Hereditary Renal Cell Cancer By Improved Evaluation of Spontaneous Pneumothorax Patients

Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

“…Arguments to support this are not only the high recurrence rate in BHD, which makes it attractive to treat these patients at the first pneumothorax much more aggressively than according to guidelines for PSP [11], but also the possibility to detect, through an affected pneumothorax patient, more family members with the pathogenic mutation and initiate life-long yearly screening of the kidneys in all carriers as the risk of developing renal-cell cancer is high [12]. Based on our database and the literature, it is likely that detecting a BHD syndrome family through a pneumothorax case will result in early diagnosis of renal-cell cancer in a large number of affected cases [13]. In summary, current guidelines for PSP result in underdiagnosis of BHD syndrome.…”