Erum Hartung, M.D.
Awarded grant from PKD Foundation to further
Benjamin Banks, Jr. Memorial Research

Children’s Hospital of Philadelphia

Project Summary

Intracranial aneurysms and vascular abnormalities in ARPKD

Unlike the dominant form of polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) has historically not been thought to cause an increased risk of intracranial aneurysms (ICA; outpouchings of arteries in the brain) or other problems with blood vessels (vascular abnormalities). However, there have now been six reported cases of ICA in children and young adults with ARPKD, and another two individuals reported with aneurysms in other parts of the body. In some cases, these aneurysms caused significant complications such as bleeding in the brain or even death. Despite the potentially devastating effects of ICAs and other blood vessel problems, we do not know how commonly they occur in individuals with ARPKD and whether they can be prevented, because to our knowledge there have been no prior systematic studies to investigate this issue. Our overall objective is to determine how common ICA and blood vessel abnormalities are in individuals with ARPKD, and to study potential risk factors for these problems, such as high blood pressure, abnormal function of the cells lining the blood vessels (endothelial dysfunction), and increased stiffness of the blood vessels. This study will yield important information to guide the care of individuals with ARPKD by helping to inform whether screening for ICA and other blood vessel problems is indicated, and by identifying potentially treatable risk factors to prevent vascular complications.

Biography

Erum Hartung, MD, MTR is a pediatric nephrologist at Children’s Hospital of Philadelphia and an Assistant Professor of Pediatrics at the University of Pennsylvania. Her clinical and research focus is in polycystic kidney disease, particularly autosomal recessive polycystic kidney disease (ARPKD). She co-directs the Combined Kidney/Liver Program at CHOP, which specializes in the care of children with ARPKD and other genetic kidney/liver diseases and ciliopathies. Her research aims to accelerate the development of new treatments for ARPKD through observational and database studies to better define the natural history and complications of ARPKD, and through imaging studies to develop new biomarkers of kidney and liver disease progression.Make it stand out.