Urine metabolomic and proteomic analysis in cystinuric patients with kidney stone disease.
Cystinuria is a rare genetic disorder caused by a defect of the proximal renal tubules which are unable to reabsorb cystine excreted in large amounts in the urine. The cystine is unsoluble in urine leading to the formation of recurrent kidney stones often resistant to therapy. Mutations in SLC3A1 are associated with autosomal- recessive mode of inherited Cystinuria, whereas SLC7A9 mutations result in a wide clinical variability even within the same family.
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