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Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth

Ortrud K Steinlein1, Marlene Reithmair1, Zulfiya Syunyaeva2,3

  • 1Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.

Frontiers in Medicine
|November 29, 2023
PubMed

Birt-Hogg-Dubé syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and lung cysts. Patients are at risk to develop pneumothorax but the magnitude of this risk during pregnancy is unknown. Information was obtained from 46 women with BHDS that had at least one pregnancy (BHDS-with preg), 18 female BHDS relatives without pregnancies (BHDS-no preg) and 25 non-BHDS female relatives with at least one pregnancy (noBHDS-with preg). In total, 77 pneumothoraces occurred in the BHDS-with preg group (mean 1.7/patient) and 11 in the BHDS-no preg group. Comparison of patient years for the first two groups showed pneumothorax incidence rates of 0.054 and 0.016, respectively. The incidence rate difference was significant [0.038 (CI 0.02-0.057), value of p-value 0.0001]. This difference is not caused by an increased number of patients with pneumothorax but by an increased number of pneumothoraces per patient. Pregnancy in BHDS therefore might be a risk factor for multiple pneumothoraces.

Keywords:
Birt-Hogg-Dubè syndromeFLCNbirthpneumothoraxpregnancy

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