[Cysteine lithiasis].
Frédéric Barbey, François Cachat, Thierry Gauthier, Florian Meid, Patrice Jichlinski, Michel Daudons
Abstract
Frédéric Barbey, François Cachat, Thierry Gauthier, Florian Meid, Patrice Jichlinski, Michel Daudons
Abstract
Cystinuria is a common inherited amino-aciduria resulting in abnormal urinary excretion of cystine and the dibasic aminoacids, lysine, arginine and ornithine. Formation of cystine kidney stones, recurrent infections and subsequent renal failure are the main complications of the disease. Recently, the gene SLC3A1 and SLC7A9, encoding the two subunits rBAT et b0,+AT of the proximal renal transporter complex, have been identified. In this article, we report the medical history of a 30-year-old patient and discuss the recent molecular progress, the clinical evolution, and the medical treatment of the cystinuria.
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Cystinuria is a common inherited amino-aciduria resulting in abnormal urinary excretion of cystine and the dibasic aminoacids, lysine, arginine and ornithine. Formation of cystine kidney stones, recurrent infections and subsequent renal failure are the main complications of the disease. Recently, the gene SLC3A1 and SLC7A9, encoding the two subunits rBAT et b0,+AT of the proximal renal transporter complex, have been identified. In this article, we report the medical history of a 30-year-old patient and discuss the recent molecular progress, the clinical evolution, and the medical treatment of the cystinuria.
Key concepts: Cystinuria, Cystine, Aminoaciduria, Ornithine, Arginine, Urinary system, Medicine, Internal medicine