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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

Dissertations, Masters Theses, Capstones, and Culminating Projects

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 …


Investigating Potential Therapies To Decrease The Rate Of Cystine Stone Growth In Slc3a1-/- Mice, Sruthi Damodar May 2015

Investigating Potential Therapies To Decrease The Rate Of Cystine Stone Growth In Slc3a1-/- Mice, Sruthi Damodar

Dissertations, Masters Theses, Capstones, and Culminating Projects

Cystinuria is an autosomal recessive disorder characterized by a defective renal transporter involved in the reabsorption of cystine and other dibasic amino acids. This leads to an accumulation of cystine in the urine, resulting in cystine stones. The SLC3A1/SLC7A9 cystine transporter accounts for 90% of cystine reabsorption and mutations in this transporter result in the formation of cystine stones. For this study, micro-computed tomography (µCT) scanning was evaluated for its feasibility to track accurate volumetric measurements of in vivo cystine stone growth in the Slc3a1-/- cystinuric mouse model. Six pharmacological interventions – sulforaphane, methyl selenocysteine, homocysteine, tiopronin, TPEN and a …


The Management Of Cystinuria, Edward Charles Halperin Jan 1979

The Management Of Cystinuria, Edward Charles Halperin

Yale Medicine Thesis Digital Library

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