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PubMed · 3077031

Cystinuria.

R D Feld
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Abstract

Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids. Cystine is a poorly soluble compound which precipitates in acid urine and results in renal calculi. Cystine stones account for 1 to 2% of all renal calculi. Homozygotes are detected by the high concentration of cystine in their urine. Treatment consists of sulfhydryl compounds that form more soluble compounds with cystine through sulfhydryl exchange as well as alkalinization of urine and hydration to make cystine more soluble.

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Amino AcidsAnimalsBiological Transport, ActiveCystinuriaHumansPenicillamineJournal ArticleReview

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R D Feld. 1988. Cystinuria.. https://doi.org/10.3109/10408368809105891

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