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Practical Controversies in Medical Management of Stone Disease pp 105–114Cite as

Cystinuria: Assessing and Managing Risk

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Abstract

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.

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Acknowledgments

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).

Disclosures

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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Authors and Affiliations

  1. Medical Service, New York Harbor VA Healthcare System, NYU Langone Medical Center, 423 E. 23rd St., 10010, New York, NY, USA

    Nicola T. Sumorok MD

  2. Nephrology, New York Harbor VA Healthcare System, NYU Langone Medical Center, 423 E. 23rd St./111G, 10010, New York, NY, USA

    David S. Goldfarb MD

Authors
  1. Nicola T. Sumorok MD
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  2. David S. Goldfarb MD
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Correspondence to David S. Goldfarb MD .

Editor information

Editors and Affiliations

  1. Department of Urology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

    Margaret S. Pearle

  2. Department of Urology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA

    Stephen Y. Nakada

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Sumorok, N., Goldfarb, D. (2014). Cystinuria: Assessing and Managing Risk. In: Pearle, M., Nakada, S. (eds) Practical Controversies in Medical Management of Stone Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9575-8_8

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  • DOI: https://doi.org/10.1007/978-1-4614-9575-8_8

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9574-1

  • Online ISBN: 978-1-4614-9575-8

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