[Cysteine lithiasis].
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.
Barbey
Frédéric
F
Division de Néphrologie, CHUV, Lausanne. frederic.barbey@chuv.hospvd.ch
Cachat
François
F
Gauthier
Thierry
T
Meid
Florian
F
Jichlinski
Patrice
P
Daudons
Michel
M
D000328:Adult; D003545:Cysteine / Q000032:analysis*; D006801:Humans; D008297:Male; D012307:Risk Factors; D001744:Urinary Bladder Calculi / Q000737:chemistry* / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
D003545:Cysteine