CYSTINURIA AND KIDNEY STONES: LIFELONG MANAGEMENT OF A RARE GENETIC STONE DISEASE

Key takeaways: § Cystinuria is a rare genetic disorder that leads to recurrent cystine kidney stones due to poor reabsorption of cystine in the kidneys. § Cystine stones form when urinary cystine concentration exceeds its solubility, especially in acidic urine. § Long-term prevention relies on high fluid intake (≥3 L/day), urinary alkalinization (pH ≥7.0), and dietary sodium/protein restriction. § Pharmacological therapy (e.g., tiopronin) is used when lifestyle measures alone are insufficient. § Early diagnosis, regular monitoring, and lifelong management are essential to reduce recurrence and preserve renal function