Cystinuria: Assessing and Managing Risk
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Cystinuria is a genetic disorder of impaired renal and intestinal transport of cystine and dibasic amino acids. It often presents in childhood and is characterized by the recurrent formation of kidney stones throughout a patient’s lifetime. Patients with cystinuria have an increased risk of the development of chronic kidney disease, even in comparison to other types of stone formers. Due to the significant morbidity associated with both passing kidney stones and undergoing procedures to remove them, the prevention of stone formation is an important focus of treatment. Urinary parameters such as volume, pH, cystine concentration and capacity, and dietary protein and sodium content are all important targets of therapy. A combination of fluid therapy, dietary modifications, alkalinizing agents, and medications such as cystine-binding thiol drugs (tiopronin and d-penicillamine) are considered for each patient in order to attempt to lower the risk of forming cystine stones. We review what is known about the assessment of risk in patients with cystinuria and the management options that are available today or on the horizon.
KeywordsAlkalies Amino acids Cystine Cysteine Genetics Mutation Nephrolithiasis Urolithiasis
We gratefully acknowledge the support of the Rare Kidney Stone Consortium (U54KD083908), a part of Rare Diseases Clinical Research Network (RDCRN), funded by the NIDDK and National Center For Advancing Translational Sciences (NCATS).
No external funding sources contributed to this study. Goldfarb is a consultant for Takeda, Keryx; a CME speaker for Quintiles, Mission; owner of Ravine Group; and has received funding from NIDDK, ORDR.
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