Abstract
Cystinuria is an autosomal recessive disorder associated with defective proximal tubular reabsorption of divalent amino acids. It leads to increased cystine, ornithine, lysine, and arginine excretion in the urine. Cystine is insoluble in physiological pH, and cystinuria leads to crystalluria and nephrolithiasis. We present a case of acquired cystinuria in a renal transplant recipient, that is, to the best of our knowledge, the first case of acquired cystinuria ever documented in the literature.
References
Leslie SW, Sajjad H, Nazzal L (2023) Cystinuria. StatPearls Publishing, Treasure Island
Kowalczyk NS, Zisman AL, Cystinuria (2021) Review of a Life-long and Frustrating Disease. Yale J Biol Med 94(4):681–686
Matsunami M, Kinoshita K, Tanaka K et al (2019) Successful pre-emptive kidney transplantation in a cystinuria patient with nephrolithiasis-related end-stage renal disease. Ren Replace Ther 5:30. https://doi.org/10.1186/s41100-019-0226-7
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E (2021) Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN. Cystinuria: clinical practice recommendation. Kidney Int 99(1):48–58
Saravakos P, Kokkinou V, Giannatos E (2014) Cystinuria: current diagnosis and management. Urology 83(4):693–699. https://doi.org/10.1016/j.urology.2013.10.013
Funding
No funding support for this article.
Author information
Authors and Affiliations
Contributions
All authors had access to the data and a role in writing the manuscript.
Corresponding author
Ethics declarations
Conflict of interest
The authors have no conflict of interest regarding this article.
Ethical approval
All procedures were performed in accordance with the ethical standards of the institution and regional research committee and with the 1964 Helinski declaration and its later amendments of comparable ethical standards.
Human and animal rights
There are no human and animal right issues to declare.
Informed consent
Informed consent was obtained from the patient.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Simhadri, P.K., Vaitla, P.K., Marathi, R. et al. Donor-transmitted cystinuria in a renal transplant recipient. J Nephrol (2024). https://doi.org/10.1007/s40620-023-01877-5
Received:
Accepted:
Published:
DOI: https://doi.org/10.1007/s40620-023-01877-5