Management of Cystinuria - 15/08/11
Doi : 10.1016/j.ucl.2007.04.006
Alexandra Rogers, MD a, Samer Kalakish, MD b, Rahul A. Desai, MD b, Dean G. Assimos, MD b, ⁎ 
a Department of Urology, Mayo Clinic, Jacksonville, FL, USA
b Wake Forest University School of Medicine, Department of Urology, Medical Center Boulevard, Winston Salem, NC 27157-1094, USA
Corresponding author. Bowman Gray Campus, Department of Urology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157-1094.Abstract |
Cystinuria is a monogenic disorder in which there is a transepithelial transport defect of di-basic amino acids, including cystine, ornithine, lysine, and arginine (COLA). This results in diminished reabsorption of these amino acids in both the intestine and renal proximal tubule. This article describes the disorder, reviews the mechanisms of normal COLA renal transport, and summarizes issues related to the disorder, such as the role of mutations, associated diseases, clinical manifestations, therapies, the renal impact, and handling of pediatric patients.
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© 2007
Elsevier Inc. Tous droits réservés.
Vol 34 - N° 3
P. 347-362 - août 2007 Retour au numéro
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