Primary Hyperoxaluria Overview скачать в хорошем качестве

Primary Hyperoxaluria Overview

Ralf Rosskamp MD, chief medical director at Dicerna Pharmaceuticals gives an overview of primary hyperoxaluria - a family of rare disorders characterized by recurrent kidney and bladder stones - and what physicians should look for in order to diagnose patients. Primary hyperoxaluria, as outlined by the NIH, is the result of overproduction of oxalate, which can combine with calcium to form calcium oxalate and subsequently kidney and bladder stones. These stones cause damage to the kidneys among other organs, and increase the chance of hematuria, urinary tract infections, and end stage renal disease (ESRD). Over time, systemic oxalosis occurs, particularly in bones and the walls of blood vessels. Since primary hyperoxaluria is inherited in an autosomal recessive pattern, Dr. Rosskamp advises physicians who have patients with recurring stone events to look for recurring stone events in the family history. For more information about primary hyperoxaluria and other rare kidney diseases, visit checkrare.com/diseases/kidney