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Cystine nephrolithiasis
Soo Jeong Kim1, Stephen Mock, Jeffrey A Stock
1Division of Pediatric Urology, Department of Urology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Insights
Cystinuria, a rare cause of kidney stones, requires consideration in children and those with recurrent stones. This case highlights successful treatment for a patient with a significant cystine stone burden.
Area of Science:
- Nephrology
- Urology
- Pediatric Nephrology
Background:
- Cystinuria is an inherited metabolic disorder.
- It leads to the formation of cystine stones in the kidneys.
- It is a rare but significant cause of nephrolithiasis, especially in pediatric patients.
Observation:
- A pediatric patient presented with a substantial burden of cystine stones.
- The patient had a history of recurrent nephrolithiasis.
Findings:
- Successful management of a large cystine stone burden was achieved.
- A multimodality therapeutic approach was employed.
Implications:
- This case underscores the importance of considering cystinuria in pediatric nephrolithiasis.
- Multimodality therapy can be effective for complex cystine stone cases.
- Early diagnosis and intervention are crucial for managing cystinuria complications.
Abstract:
Cystinuria is a rare etiology of nephroliathiasis but must be considered in the pediatric population and in those patients with recurrent nephrolithiasis. We describe a patient with an unusually large cystine stone burden and our successful multimodality therapy.
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