Autosomal Dominant Polycystic Kidney Disease: Diagnosis, Genetic testing, and Screening for Intracranial Aneurysm
Date of Award
Spring 2023
Degree Name
Master of Medical Science (Physician Assistant)
Department
Physician Assistant; College of Health Sciences
First Advisor
Jacinta Hollinger
Abstract
Receiving a diagnosis of ADPKD can be anxiety inducing. Current imaging guidelines are designed to help clinicians diagnose ADPKD, but imaging does little to determine how severe a patient's disease course may be. Due to the familial nature of ADPKD clinicians need to be informed and prepared to counsel patients on the risks and benefits of screening at a young age. As more tools become available to predict an individual's disease prognosis, it is important for clinicians to consider implementing genetic testing to provide the best individualized patient care. More specific prognostic information in the hands of the patient can ease uncertainty and give the patient a better sense of control over their disease. This presentation helps to display what information can be gleaned from genetic testing and which patient populations it may benefit. It also outlines how tracking certain parameters of kidney function could help predict disease course. Another topic that has remained controversial for clinicians is whether patients should be universally screened for intracranial aneurysm. This article aims to identify subsets of patient’s with ADPKD that would benefit from intracranial aneurysm screening and why screening a larger population should be considered.
Recommended Citation
Mackenzie, Corinne, "Autosomal Dominant Polycystic Kidney Disease: Diagnosis, Genetic testing, and Screening for Intracranial Aneurysm" (2023). Capstone Showcase. 57.
https://scholarworks.arcadia.edu/showcase/2023/pa/57
Autosomal Dominant Polycystic Kidney Disease: Diagnosis, Genetic testing, and Screening for Intracranial Aneurysm
Receiving a diagnosis of ADPKD can be anxiety inducing. Current imaging guidelines are designed to help clinicians diagnose ADPKD, but imaging does little to determine how severe a patient's disease course may be. Due to the familial nature of ADPKD clinicians need to be informed and prepared to counsel patients on the risks and benefits of screening at a young age. As more tools become available to predict an individual's disease prognosis, it is important for clinicians to consider implementing genetic testing to provide the best individualized patient care. More specific prognostic information in the hands of the patient can ease uncertainty and give the patient a better sense of control over their disease. This presentation helps to display what information can be gleaned from genetic testing and which patient populations it may benefit. It also outlines how tracking certain parameters of kidney function could help predict disease course. Another topic that has remained controversial for clinicians is whether patients should be universally screened for intracranial aneurysm. This article aims to identify subsets of patient’s with ADPKD that would benefit from intracranial aneurysm screening and why screening a larger population should be considered.