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Bilateral Life-Threatening Obstructive Cystine Stones in a 19-Month-Old Child Requiring Staged Endourological
Ezat Bakhsh1, Mohamed A Ahmadi2, Ahmed A Al Rashed2
1Pediatric Surgery, Salmaniya Medical Complex, Manama, BHR.
Insights
Cystinuria, a rare inherited condition, can cause life-threatening kidney stones in infants. Prompt treatment involving emergency decompression and staged surgery is crucial for managing severe cases in young children.
Area of Science:
- Nephrology
- Pediatric Urology
- Medical Genetics
Background:
- Cystinuria is an inherited metabolic disorder.
- It leads to recurrent kidney stones, often with early onset.
- Severe infantile presentations, though rare, can be life-threatening due to bilateral obstruction and acute kidney injury.
Abstract:
Cystinuria is an inherited disorder that can lead to recurrent stone disease with a very early onset and possible devastating effects. Severe presentations in infancy are uncommon but may be life-threatening, particularly when obstruction is bilateral, which can cause acute renal injury and impairment. We report a 22‑month‑old boy who presented with anuric acute kidney injury, severe hyperkalemia, and ventricular tachycardia secondary to bilateral obstructing cystine stones. He initially required emergency decompression, followed by staged percutaneous nephrolithotomy (PCNL) procedures aided by retrograde intrarenal procedures. This case highlights the need for rapid decompression, careful staging of definitive surgery, and long‑term metabolic management in young children with cystinuria.
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