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.
Bakhsh et al. (Mon,) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: