Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.

ReviewResearch and reports in urology· 2026

Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.

Alberto Zambudio Munuera, Patricia Rodriguez Parras, Juan Antonio Galan Llopis … Miguel Angel Arrabal Polo

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Stones & EndourologyReviewClinical practiceQ1IF 2.7

Only 16.3% of cystinuria patients met the target urinary monitoring range in a registry.

Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.

Alberto Zambudio Munuera … Miguel Angel Arrabal Polo

Research and reports in urology · 2026 · Q1 in Urology

Background

Cystinuria is a hereditary aminoaciduria causing recurrent cystine nephrolithiasis, impaired quality of life and potential renal function decline.

Methods

Preliminary data from the EUROCYS 2024 prospective European registry (269 patients, 29 centers, 8 countries) showed that only 16.3% of patients achieved the target urinary H range, 55.2% remained above the conventional urinary cystine threshold of 250 mg/L, and approximately 39% experienced a new stone event within the preceding 12 months, despite follow-up in specialist centers.

n = 269 patients

16.3%

Results

16.3%

fewer than 1 in 6 patients keep cystine in the safe range

n = 269 patients

More results

Despite established treatment guidelines, real-world data reveal a persistent gap between recommended targets and clinical outcomes.

Discontinuation rates for available thiol drugs have been reported to reach 30-50%.

More results

This narrative review, based on a structured non-systematic search of major databases and guideline repositories (2009-2026), synthesizes current evidence on cystinuria diagnosis and management and appraises emerging adjunctive interventions.

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Conclusion

Current standard treatment remains insufficient for a substantial proportion of patients, underscoring the need to evaluate accessible adjunctive therapies with defined mechanisms and measurable outcomes.

Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.

Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.

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