Abstract
A young woman was hospitalized for recurrent nephritis colitis. Renal echography shows stones in calix, but renal function was steady. The analysis of urinary amino acids shows a large elevation of cystinuria, with conjoint elimination of dibasic amino acids. Genetics confirms the diagnosis of inherited cystinuria and is helpful for differential diagnosis from other cystinurias or inherited errors of amino acids metabolism. The patient will be treated with hyperhydration and sulfhydryl agents, and followed by renal echography, biological examination with cystine quantification in urines and study of cristalluria. Lithotripsy can be used, but in case of fail, surgery must be engaged.
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