ReviewWorld journal of urology2025
Cystinuria in children: diagnosis and treatment.
Review in World journal of urology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Recurrent Nephrolithiasis in Congenital Cystinuria With a Complete Duplex Collecting System: A Case Report.Cureus · 2026Article
- Pediatric urolithiasis: expanding knowledge and refining minimally invasive management-editorial for the world journal of urology topic collection.World journal of urology · 2026Article
- Fluoroscopy-free mini-PCNL using CT-ultrasound fusion guidance in a pediatric patient with recurrent cystine stones: A case report.Urology case reports · 2026Article
- Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.Research and reports in urology · 2026Review
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Authors and funding
2 authors.
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Abstract
purposeCystinuria is the predominant hereditary factor leading to kidney stone formation in the pediatric population. The aim of this manuscript is to provide an overview of cystinuria in children.
methodsThe authors performed a literature review on studies regarding cystinuria in children. A narrative synthesis for analysis of the studies was used.
resultsCystine is a homodimeric amino acid formed by the disulfide bonding of two cysteine molecules. The problem with this autosomal recessive condition arises from a malfunction in the process of reabsorption. Cystine filtered from the renal glomerulus cannot be reabsorbed from the proximal tubules. Therefore, due to its extremely low solubility at normal urine pH, it precipitates and causes stone formation. Recurrent stone formation is the most prominent clinical presentation of cystinuria. The patients usually present with a renal colic episode with concomitant nausea and hematuria. The aim of medical treatment is to maintain the solubility of cystine in urine. The main strategies are to increase urine volume and urinary pH. Potassium citrate or potassium bicarbonate can be used to raise the pH of the urine to 7.5 to increase cystine solubility. If the treatment with alkalinization and higher urine output fails, cystine binding agents such as tiopronin and D-penicillamine can be added to the treatment. Surgical management of pediatric patients with cystine stones is similar to that in the adult population. However, cystine stones can be resistant to ESWL. Retrograde ureteroscopy with semirigid and flexible instruments is a good option for ureteral stones and also for renal stones less than 20 mm in diameter. The golden standard option for high-volume stones larger than 20 mm in diameter is percutaneous nephrolithotomy (PCNL).
conclusionsCystinuria is the primary hereditary factor contributing to the formation of kidney stones throughout childhood. It is a genetic disorder that typically manifests as recurrent stone formations. The aim of the treatment of genetically caused pediatric stone diseases is to prevent stone formation with medical treatments, remove existing stones through surgical treatments, and mitigate the risk of developing chronic kidney disease in the future.
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