BHD Literature Database Updated

The literature data base has been updated with two articles:

Gharbi et al. report that worms lacking the C. elegans homologue of FLCN, F22D3.2, lived significantly longer than wild type worms. RNAi knock-down of HIF-1 ablated these effects, demonstrating that FLCN exerts it effects on longevity and stress resistance via the HIF-1 signalling pathway. Conversely, RNAi knockdown of the insulin signalling pathway genes, daf2 and daf16, magnified the effects of FLCN knock-down, indicating that these pathways regulate longevity independently. Worms lacking FLCN also showed increased thermoresistance, and again, this effect seemed to require HIF-1, but not insulin signalling.

In December, the Journal of the American Medical Association (JAMA) Clinical Challenge described a case of BHD (Felton and Madan, 2012). In this article, the authors state that there are currently no clinical guidelines regarding the age or frequency at which to screen for renal cancer in BHD and that the best work up to perform is renal tract ultrasound. Perdeaux and Solly, of the Myrovlytis Trust, wrote a letter, published this week in JAMA, pointing out that CT and MRI can detect smaller lesions than ultrasound and that the European BHD Consortium recommends annual MRI scans are undertaken from the age of 20 years (Menko et al., 2009). We also point out that currently no symptoms in addition to fibrofolliculomas, lung cysts and renal cell carcinoma are currently associated with the disease, contrary to a statement in the original article listing a number of other symptoms. Our letter and a reply from Felton and Madan can be found here.

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

Leave a Reply

Your email address will not be published. Required fields are marked *