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Theses/Dissertations

2017

Cystinuria

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The Effects Of Various Therapeutics On Cystine Stone Formation, See Yang May 2017

The Effects Of Various Therapeutics On Cystine Stone Formation, See Yang

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Cystinuria is an autosomal recessive genetic disorder characterized by the defect of a renal transporter involved in cystine reabsorption. When this transporter is deficient, cystine cannot be broken down and reabsorbed by the body and is excreted via urine in high concentrations. The high levels of cystine present in the urine eventually lead to recurrent cystine urolithiasis due to its inability to solubilize. Despite having various forms of treatments such as thiol pharmaceutical therapies such as tiopronin and urine alkalinizing agents like potassium citrate, only few patients with cystinuria are able to successfully decrease cystine urine concentration. We observed the …