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Date of Award
Spring 2025
Degree Name
Master of Medical Science (Physician Assistant)
Department
Physician Assistant; College of Health Sciences
First Advisor
Lisa Akeselrad PA-C, MSPAS
Abstract
Cystinuria is an autosomal recessive disease that affects the transport of amino acids in the proximal tubules of the nephron. It typically presents around 12 years old and accounts for approximately 6-8% of kidney stones in pediatric patients. It is important for all providers to have a basic understanding of the diagnostics and management options surrounding this genetic mutation. Long term complications as a result of poor management or late diagnosis include recurrent UTIs, hypertension, ureteral scarring, chronic kidney disease, poor quality of life, and ultimately renal failure. This CME will be a succinct summary of the algorithm family medicine, ER, and urgent care providers can follow in order to provide the most up to date treatment options while striving to maintain the highest quality of life for these patients.
Recommended Citation
Freebery, Lauren K., "CYSTINURIA: Approach to early diagnosis, management, and advances in treatment options" (2025). Capstone Showcase. 64.
https://scholarworks.arcadia.edu/showcase/2025/pa/64
CYSTINURIA: Approach to early diagnosis, management, and advances in treatment options
Cystinuria is an autosomal recessive disease that affects the transport of amino acids in the proximal tubules of the nephron. It typically presents around 12 years old and accounts for approximately 6-8% of kidney stones in pediatric patients. It is important for all providers to have a basic understanding of the diagnostics and management options surrounding this genetic mutation. Long term complications as a result of poor management or late diagnosis include recurrent UTIs, hypertension, ureteral scarring, chronic kidney disease, poor quality of life, and ultimately renal failure. This CME will be a succinct summary of the algorithm family medicine, ER, and urgent care providers can follow in order to provide the most up to date treatment options while striving to maintain the highest quality of life for these patients.