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Cystinuria and Kidney Stones: Lifelong Management of a Rare Genetic Stone Disease

Year: 2025

Type: article

Abstract: 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

Source: Zenodo (CERN European Organization for Nuclear Research)

Authors: Belhachem, Abdelaali, Ramdane, ALLALI

Institution: University of Bechar

Language: English

Topic: Kidney Stones and Urolithiasis Treatments

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W6893527820

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