Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.

Autor:	van Riel L; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, Netherlands., van Hulst RA; Department of Hyperbaric Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., van Hest L; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., van Moorselaar R; Department of Urology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Boerrigter BG; Department of Pulmonary Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Franken SM; Department of Dermatology, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Wolthuis R; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, Netherlands., Dubbink HJ; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Marciniak SJ; Cambridge Institute for Medical Research, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Royal Papworth Hospital, Trumpington, Cambridge, UK., Gupta N; Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio, USA., van de Beek I; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Jazyk:	angličtina
Zdroj:	Expert review of respiratory medicine [Expert Rev Respir Med] 2023 Jul-Dec; Vol. 17 (11), pp. 1003-1008. Date of Electronic Publication: 2023 Dec 26.
DOI:	10.1080/17476348.2023.2284375
Abstrakt:	Introduction: Although very uncommon, severe injury and death can occur during scuba diving. One of the main causes of scuba diving fatalities is pulmonary barotrauma due to significant changes in ambient pressure. Pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma. Areas Covered: Birt-Hogg-Dubé syndrome (BHD), caused by pathogenic variants in the FLCN gene, is characterized by skin fibrofolliculomas, an increased risk of renal cell carcinoma, multiple lung cysts and spontaneous pneumothorax. Given the pulmonary involvement, in some countries patients with BHD are generally recommended to avoid scuba diving, although evidence-based guidelines are lacking. We aim to provide recommendations on scuba diving for patients with BHD, based on a survey of literature on pulmonary cysts and pulmonary barotrauma in scuba diving. Expert Opinion: In our opinion, although the absolute risks are likely to be low, caution is warranted. Given the relative paucity of literature and the potential fatal outcome, patients with BHD with a strong desire for scuba diving should be informed of the potential risks in a personal assessment. If available a diving physician should be consulted, and a low radiation dose chest computed tomography (CT)-scan to assess pulmonary lesions could be considered.
Databáze:	MEDLINE
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