Lab Overview

Berenice Y,Gitomer, Ph.D. is a Research Professor of Medicine in the Division of Renal Diseases and Hypertension at the University of Colorrado Anschutz Medical Campus. For the past 30 years, Dr.Gitomer’s research has focused of genetic diseases of the kidney. Since joining the University of Colorado Renal Division in 2003 Dr. Gitomer and her colleagues have studied Autosomal Dominant Polycystic Kidney Disease ADPKD with a focus on translational studies, and the factors including genetics that affect disease severity.

Autosomal dominant polycystic kidney disease affects an estimated 600,000 individuals in the US alone, and is the fifth most common cause of end-stage kidney failure. Disease results primarily from a mutation in either the PKD1 or PKD2 genes which encode the corresponding polycystin 1 and 2 proteins. A key feature of ADPKD is the development and continued expansion of fluid filled cysts in the kidneys leading to ultimate loss of kidney function. However, the rate of disease progression is variable among those affected. Genetic variability at both the locus (mutated gene) and allelic (mutation type and location) levels contributes to the phenotypic heterogeneity. While the fact that variability is also present among members of the same family who carry the same gene mutation, implicates the influence of environmental or other factors on disease progression.

ADPKD is often considered an adult onset disease. However, affected children frequently present with well-established cystic kidney disease despite apparently preserved kidney function. A goal of our research is to discover better biomarkers to identify the patients including children who are at greatest risk for more rapid disease progression. We have studied biomarkers of disease progression in both children and adults including angiogenic growth factors, proinflammatory and oxidative stress biomarkers. Secondary kidney injury also affects disease severity and our recent studies indicate that kidney stone disease in patients with ADPKD is associated with faster disease progression. While most research focuses on the kidneys in ADPKD, disease is systemic. We were the first to describe a low-turnover bone defect in young ADPKD patients with preserved kidney function.