PILOT 1
Genetic risk and markers of early kidney disease in children with sickle cell disease
Investigator: Divya Moodalbail, MD
Mentor: Bonita Falkner, M.D.
Dr. Divya Moodalbail is a pediatric nephrologist in Wilmington, Delaware and is affiliated with multiple hospitals in the area, including Jefferson Health-Thomas Jefferson University Hospitals and Nemours Children’s Hospital. She received her medical degree from Bangalore Medical College and has been in practice between 11-20 years. The goal of the proposed study is to estimate the prevalence of kidney disease risk APOL1 gene polymorphisms in a cohort of youth with sickle cell disease and to evaluate markers of early renal dysfunction in these patients. The study is a pilot multi-center cross-sectional study in children with established sickle cell disease being followed at the sickle cell center at Nemours/ A. I. duPont Hospital for Children, Wilmington DE and Nemours satellite clinics in Orlando, FL and Pensacola, FL.
Chronic kidney disease (CKD) is a major cause of morbidity and mortality in adults with sickle cell disease (SCD). Approximately 25% of SCD patients develop CKD. Early identification of SCD youth at high risk for CKD is critical because available preventive interventions can preserve renal function and reduce progression of CKD. This project will examine the overall concept that early evidence of CKD is detectable in SCD youth. Renal injury associated with SCD can affect any portion of the nephron, from the glomerulus to the distal collecting tubule. Little is known on markers of early stage renal injury in SCD patients. When compared to European-Americans, African-Americans (without SCD) have a four to five fold greater risk for non-diabetic kidney disease. Recent reports describe a significant association of CKD in African Americans with genetic variants of apolipoprotein L1(APOL1) gene. These genetic variants for CKD in African-Americans have not been examined in SCD youth with concurrent measures of kidney injury markers. This project is designed to investigate these issues.
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