Syndrome de Birt-Hogg-Dube

Une maladie autosomique dominante caractérisée par des lésions cutanées, des kystes pulmonaires, un pneumothorax spontané et une prédisposition accrue au cancer du rein.

Symptômes

Gestion de la maladie

Gènes analysés

FLCN

Bibliographie

Jensen, D. K., Villumsen, A., Skytte, A. B., et al. Birt-Hogg-Dubé syndrome: a case report and a review of the literature. European clinical respiratory journal. 2017 Feb 20;4(1):1292378.

Nahorski, M. S., Lim, D. H., Martin, L., et al. Investigation of the Birt-Hogg-Dube tumor suppressor gene (FLCN) in familial and sporadic colorectal cancer. Journal of medical genetics. 2010 Jun;47(6):385-90.

Sattler, E. C., Reithmair, M., Steinlein, O. K. Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome. PloS one. 2018; 13(12): e0209504.

Sattler, E. C., Steinlein, O. K. Birt-Hogg-Dubé Syndrome. GeneReviews®. University of Washington, Seattle.

Sattler, E. C., Syunyaeva, Z., Mansmann, U., et al. Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome. Chest. 2020 May;157(5):1199-1206.

Schmidt, L. S., Linehan, W. M. Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. Expert opinion on orphan drugs. 2015;3(1):15-29.

Toro, J. R., Wei, M. H., Glenn, G. M., et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. Journal of medical genetics. 2008 Jun;45(6):321-31.