ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.

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dc.creatorGeilswijk, Marianne
dc.creatorGenuardi, Maurizio
dc.creatorWoodward, Emma R
dc.creatorNightingale, Katie
dc.creatorHuber, Jazzmin
dc.creatorMadsen, Mia Gebauer
dc.creatorLiekelema-van der Heij, Dieke
dc.creatorLisseman, Ian
dc.creatorMarlé-Ballangé, Jenny
dc.creatorMcCarthy, Cormac
dc.creatorMenko, Fred H
dc.creatorMoorselaar, R Jeroen A van
dc.creatorRadzikowska, Elzbieta
dc.creatorRichard, Stéphane
dc.creatorRajan, Neil
dc.creatorSommerlund, Mette
dc.creatorWetscherek, Maria TA
dc.creatorDi Donato, Nataliya
dc.creatorMaher, Eamonn R
dc.creatorBrunet, Joan
dc.date2024-11-29T15:47:46Z
dc.date2024-12
dc.date2024-02-12
dc.date2024-11-29T15:47:46Z
dc.date.accessioned2026-08-03T02:47:59Z
dc.descriptionBirt-Hogg-Dubé syndrome (BHD syndrome) is an autosomal dominant multisystem disorder with variable expression due to pathogenic constitutional variants in the FLCN gene. Patients with BHD syndrome are predisposed to benign cutaneous fibrofolliculomas/trichodischomas, pulmonary cysts with an associated risk of spontaneous pneumothorax, and renal cell carcinoma. A requirement for updated International consensus recommendations for the diagnosis and management of BHD syndrome was identified. Based on a comprehensive literature review and expert consensus within the fields of respiratory medicine, urology, radiology, dermatology, clinical oncology and clinical genetics, updated recommendations for diagnosis, surveillance and management in BHD syndrome were developed. With the widespread availability of FLCN genetic testing, clinical scenarios in which a diagnosis should be considered and criteria for genetic testing were defined. Following a clinical and/or molecular diagnosis of BHD syndrome, a multidisciplinary approach to disease management is required. Regular renal cancer surveillance is recommended in adulthood and life-long, but the evidence base for additional tumour surveillance is limited and further research warranted. Recommendations for the treatment of cutaneous, pulmonary and renal manifestations are provided. Awareness of BHD syndrome needs to be raised and better knowledge of the clinical settings in which the diagnosis should be considered should enable earlier diagnosis. Further details, including areas for future research topics are available at: https://www.genturis.eu/l=eng/Guidelines-and-pathways/Clinical-practice-guidelines.html .
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dc.identifier1018-4813
dc.identifiers41431-024-01671-2
dc.identifier1671
dc.identifierhttps://www.repository.cam.ac.uk/handle/1810/376913
dc.identifier1476-5438
dc.identifier.urihttps://repo.dare.co.zw/handle/123456789/169235
dc.languageen
dc.languageeng
dc.publisherSpringer Nature
dc.publisherhttps://doi.org/10.1038/s41431-024-01671-2
dc.subjectBirt-Hogg-Dube Syndrome
dc.subjectHumans
dc.subjectTumor Suppressor Proteins
dc.subjectProto-Oncogene Proteins
dc.subjectGenetic Testing
dc.subjectKidney Neoplasms
dc.subjectCarcinoma, Renal Cell
dc.titleERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
dc.typeArticle

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