The literature Database has been updated with four papers.

Basic research:

Hasumi et al. report that biallelic FLCN inactivation in murine heart muscle causes cardiac hypertrophy, cardiac dysfunction and significantly reduces lifespan compared to wild type littermates. This effect was mediated by PGC1a, as animals with both FLCN and PGC1a knocked out in the heart not show this phenotype. FLCN deletion led to overexpression of PGC1a, leading to increased mitochondrial mass and high intracellular ATP levels. This led to a reduction in AMPK phosphorylation at T172, and subsequent mTORC1 dysregulation. In support of this model, Rapamycin rescued the heart disease phenotype of these mice.

Case studies:

Auerbach et al. report the case study of a patient who presented with familial spontaneous pneumothorax and was subsequently diagnosed with Birt-Hogg-Dubé Syndrome.

Sakaguchi et al. describe the case of a 76 year-old woman who underwent surgery to treat type A aortic dissection. She suffered a post-operative pneumothorax, and CT revealed the presence multiple cysts in both lungs. Gene testing confirmed a diagnosis of Birt-Hogg-Dubé Syndrome. [Article in Japanese]

Johannesma et al. report the cases of two unrelated male patients who had suffered recurrent episodes of pneumothorax from the age of 14. Subsequent genetic testing confirmed both patients had Birt-Hogg-Dubé Syndrome. Both patients had lung cysts, but neither showed signs of skin or kidney lesions. Neither patient has a family history of kidney cancer or pneumothorax although one patient had a family history of fibrofolliculomas. The authors suggest that Birt-Hogg-Dubé Syndrome should be considered in paediatric cases of recurrent spontaneous pneumothorax.

This study is freely available to download from the BHD Articles Library: Clinical Research.

To find out more, the latest version of the database is available to download here.