关键词：异常;体系结构;肝纤维化;基因;基因疾病;出血;传染病;肾脏疾病;死亡率;病理生理学;移植
摘 要：Polycystic kidney disease (PKD), the most common life threatening genetic disease and affects approximately 1:400 people in the US including significant numbers of Active Duty Military personnel, Veterans and their beneficiaries. In PKD, the affected renal epithelia form cysts, eventually destroying renal architecture and function, leading to chronic kidney disease and end stage renal disease as well as pain, bleeding and infection of the cysts. Despite identification of the genetic mutations and remarkable advances in understanding the pathophysiology of PKD, there is currently no specific therapy for PKD. The present research examines the innovative translational therapy of intravenous administration of adult renal tubule cells containing the wild type (normal) PKD genes in experimental PKD (the PCK rat model). The aim is to replace abnormal renal epithelia while avoiding the morbidity and mortality of surgery. Expansion of cells in vitro will also extend the utility of organs available for transplant. Data obtained to date demonstrate markedly lower renal cyst volume and fibrosis and better kidney function with cell transplantation. These results are the basis for an additional funding application (PR130268) to extend the present studies, ultimately to prevent or treat kidney failure in humans. The results will also be presented at the Annual Meeting of the American Society of Nephrology in November, 2013.