Cystinuria, a rare autosomal recessive disorder, leads to recurrent kidney stones due to impaired cystine reabsorption in the renal tubules. Prevention is key, with hydration and a low-sodium, methionine-restricted diet forming the mainstay of conservative measures. Urinary alkalinisation is also key using potassium citrate, while sodium bicarbonate may be used as an adjunct or alternative. Thiol (-SH) agents like tiopronin or D-penicillamine are second-line options but are limited by side effects and high discontinuation rates. Captopril has also been used. Regular monitoring for toxicity is essential with thiol-based therapies.

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Medical Management of Cystine Stones

  • Robert Calvert

摘要

Cystinuria, a rare autosomal recessive disorder, leads to recurrent kidney stones due to impaired cystine reabsorption in the renal tubules. Prevention is key, with hydration and a low-sodium, methionine-restricted diet forming the mainstay of conservative measures. Urinary alkalinisation is also key using potassium citrate, while sodium bicarbonate may be used as an adjunct or alternative. Thiol (-SH) agents like tiopronin or D-penicillamine are second-line options but are limited by side effects and high discontinuation rates. Captopril has also been used. Regular monitoring for toxicity is essential with thiol-based therapies.