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Postgrad Med J
December 2006
Department of Urology, Guy's Hospital, Guy's and St Thomas' and GKT School of Medicine, London, UK.
Cystinuria is an autosomal recessive disorder in renal tubular and intestinal transport of dibasic amino acids, which results in increased urinary excretion of cystine, ornithine, lysine and arginine. It affects 1 in 20 000 people and is caused by a defect in the rBAT gene on chromosome 2. Development of urinary tract cystine calculi is the only clinical manifestation of this disease.
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