Cystinuria is a genetic disorder with both autosomal recessive or incompletely dominant inheritance. The disorder disrupts cystine and other dibasic amino acid transport in the proximal tubules of the kidney resulting in recurrent kidney stone formation. Currently, there are no consensus guidelines on the evaluation and management of this disease. This manuscript represents the consensus of the author panel and will provide clinicians with a stepwise framework for the evaluation and clinical management of patients with cystinuria based on evidence in the existing literature.
A search of MEDLINE®/Pubmed® and the Cochrane database was performed using the key words "cystine nephrolithiasis," "cystinuria," "penicillamine, cystine," and "tiopronin, cystine." In total, as of May 2018 these searches yielded 2335 articles, which were then evaluated for their relevance to the topic of evaluation and management of cystinuria. Evidence was evaluated by the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system.
Twenty-five articles on the topic of cystinuria or cystine nephrolithiasis were deemed suitable for inclusion in this manuscript. The literature supports a logical evaluation process and step-wise treatment approach beginning with conservative measures: fluid intake and dietary modification. If stone formation recurs, proceed to pharmacotherapeutic options by first alkalinizing the urine and then using cystine-binding thiol drugs.
The proposed clinical pathways provide a framework for the efficient evaluation and treatment of patients with cystinuria that should improve overall outcomes of this rare, but highly recurrent form of nephrolithiasis.
Journal of endourology. 2020 Feb 17 [Epub ahead of print]
Brian H Eisner, David S Goldfarb, Michelle Baum, Craig B Langman, Gary C Curhan, Glenn M Preminger, John Lieske, Gyan Pareek, Kay Thomas, Anna Zisman, Dimitri Papagiannopoulos, Roger Sur
Massachusetts General Hospital, Urology, 55 Fruit Street, GRB 1102, Boston, Massachusetts, United States, 02114., New York DVAMC, Nephrology/111G, 423 E 23rd St., NEW YORK, New York, United States, 10010; ., Harvard University, 1812, Cambridge, Massachusetts, United States; ., Northwestern University, Pediatrics, Chicago, Illinois, United States; ., Harvard Medical School, Channing Laboratory, 181 Longwood Avenue, Boston, Massachusetts, United States, 02115; ., Duke University Medical Center, Urology, DUMC 3167, Durham, North Carolina, United States, 27710; ., Mayo Clinic, Nephrology, Rochester, Minnesota, United States; ., The Warren Alpert Med. Sch. of Brown Univ., Section of Minimally Invasive Urol. Surg., 2 Dudley Street, Ste. 174, Providence, Rhode Island, United States, 02905; ., Guy's Hopsital & King's College London, Urology, London, United Kingdom of Great Britain and Northern Ireland; ., University of Chicago, Nephrology, Chicago, Illinois, United States; ., University of California San Diego Health System, 21814, Urology, San Diego, California, United States; ., University of California San Diego School of Medicine, 12220, Department of Urology, San Diego, California, United States; .