Polycystic kidney disease, a hereditary disorder, prevents the kidneys from functioning normally. PKD is one of the most common hereditary diseases, impacting about 600,000 people in the U.S. alone.

Each disorder can impact other organs in addition to the kidneys. Right now, there is no known cure or specific treatment for either form of PKD.

Registry data indicate that approximately 50 percent of children with kidney disease have structural renal abnormalities, generally associated with known or suspected genetic mutations. Polycystic kidney disease affects at least 1 in 4,000 individuals. Treatment of the chronic renal failure in these individuals currently costs the U.S. more than $3.6 billion annually.

Researchers in this program works closely with the Renal Clinic at Children's Hospital of Wisconsin. It is the only clinic solely devoted to the multidisciplinary diagnosis and treatment of children with polycystic kidney disease. It is a unique resource being utilized by children from all over the world for comprehensive diagnostics, therapeutic care plans and consideration for preimplantation genetic diagnosis.

The National Institutes of Health has awarded $4.6 million over the next five years to establish a Research Center of Excellence in Pediatric Nephrology at Childrens Research Institute. As one of only two such centers in the country, it will build on current groundbreaking research programs at the Medical College of Wisconsin and Children's Research Institute, expediting new and exciting treatments for thousands of children with genetic, acquired or progressive kidney disease.

The grant will focus on three major areas: polycystic kidney disease, which is a genetic disorder characterized by the growth of numerous fluid-filled cysts in the kidneys; hypertension and diabetes-induced disease; and damage that occurs when the kidney lacks oxygen.

Researchers at the center are working to delineate the genetic and cellular mechanisms of childhood kidney disease and its progression and develop unique therapies that will limit or even cure genetic or acquired kidney disorders. Basic research at the laboratory bench at the molecular and cellular level can unveil discoveries that can lead to clinical improvement at the patient's bedside. This work is expected to translate ultimately to new diagnostic tests and new clinical trials for specific therapies in children with genetic and acquired kidney diseases which lead to progressive loss of kidney function.

One research project, headed by Dr. Avner and William E. Sweeny Jr., MS, assistant professor of pediatrics, will explore the growth of cysts in polycystic disease, an inherited disease that is the third-leading cause of chronic kidney failure. The other major project headed by Dr. Roman and Howard J. Jacob, PhD, director of the Human and Molecular Genetics Center, focuses on identifying the genetic basis of susceptibility to develop glomerular disease, a condition associated with hypertension and diabetes, which accounts for 80 percent of the patients with chronic kidney failure on dialysis. These two conditions account for medical costs of more than $19 billion per year in the U.S. alone.

This information could lead to diagnostic tests to identify individuals more susceptible to the development of hypertension and diabetic induced kidney disease and perhaps new therapies for the prevention of end stage kidney disease in hypertensive and diabetic patients that account for almost one-third of the adult population.