Management of cystinuria.
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.
Department of Urology, Mayo Clinic, Jacksonville, FL, USA.
Alexandra
A
Rogers
Samer
S
Kalakish
Rahul A
RA
Desai
Dean G
DG
Assimos
D000328:Adult; D000599:Amino Acids, Diamino / Q000502:physiology; D002648:Child; D003555:Cystinuria / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D006801:Humans
D000599:Amino Acids, Diamino