Lorenzo Pellegrini, PhD, Founder and Chief Executive Officer of Palladio Biosciences discusses the prevelance of polycystic kidney disease (PKD).
Polycystic kidney disease (PKD) is the most common inherited genetic disease in humans. It exists around the world and in all races, occurring equally in women and men. In PKD, gene mutations cause the kidneys to become enlarged with multiple cysts. It is a chronic, progressive disease. PKD cysts can be present even before birth and grow and enlarge throughout a patient’s life. PKD, through a combination of abnormal cell proliferation, fluid secretion into the cysts, and extracellular matrix defects, causes numerous cysts to form, sometimes numbering in the thousands, which can greatly enlarge, replacing much of the normal kidney structure and interfering with normal kidney function. As compared to a normal size kidney which is about the size of a human fist, polycystic kidneys can grow as a large as a football and weigh up to 38 pounds each. This can lead to kidney failure and the need for dialysis or kidney transplantation. Annually, 8 people per 1 million in the US have kidney failure because of PKD.