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- W2104686039 abstract "Cystinuria is an inherited disorder of the dibasic amino acid transport system in the proximal tubule and the small intestine. Two responsible genes have been identified, the SLC3A1 on chromosome 2 and the SLC7A9 on chromosome 19. The inability of renal tubules to reabsorb cystine and the relative insolubility of cystine at physiological urine pH lead to stone formation. Cornerstone of the treatment remains stone prevention with hyperhydration, urinary alkalization, and pharmacologic therapy. Repeated stone formation necessitates urologic interventions, which mainly include minimally invasive procedures. The appropriate management of cystinuria is often challenging and requires close follow-up of the patient. Cystinuria is an inherited disorder of the dibasic amino acid transport system in the proximal tubule and the small intestine. Two responsible genes have been identified, the SLC3A1 on chromosome 2 and the SLC7A9 on chromosome 19. The inability of renal tubules to reabsorb cystine and the relative insolubility of cystine at physiological urine pH lead to stone formation. Cornerstone of the treatment remains stone prevention with hyperhydration, urinary alkalization, and pharmacologic therapy. Repeated stone formation necessitates urologic interventions, which mainly include minimally invasive procedures. The appropriate management of cystinuria is often challenging and requires close follow-up of the patient. Re: Saravakos et al.: Cystinuria: Current Diagnosis and Management (Urology 2013;83:693-699)UrologyVol. 83Issue 4PreviewWe read with interest the article in press of 18 November, 2013, published in Urology, entitled Cystinuria: Current Diagnosis and Management.1 The authors considered as diagnostic evaluation of cystinuria, in the absence of a urinary stone, the urine cystine excretion exceeding 1300 μmol/g creatinine. They affirm that this value corresponds to 150 mmol/mmol creatinine. We believe probably that there is a mistake in the conversion because 1300 μmol/g creatinine corresponds to 150 μmol/mmol creatinine. Full-Text PDF" @default.
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- W2104686039 date "2014-04-01" @default.
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- W2104686039 title "Cystinuria: Current Diagnosis and Management" @default.
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- W2104686039 doi "https://doi.org/10.1016/j.urology.2013.10.013" @default.
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