Pathophysiology and treatment of cystinuria.

Article Details

Citation

Chillaron J, Font-Llitjos M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacin M

Pathophysiology and treatment of cystinuria.

Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1.

PubMed ID
20517292 [ View in PubMed
]
Abstract

Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amino acid transport protein rBAT and b(0,+)-type amino acid transporter 1) of the amino acid transport system b(0,+). This autosomal recessive disorder (in which few cases show dominant inheritance) causes a failure in the reabsorption of filtered cystine and dibasic amino acids in the proximal tubule. The clinical symptoms of this disease are caused by the loss of poorly soluble cystine, which precipitates to form stones. Although rare, the prevalence of cystinuria is sufficiently high that the disease results in a substantial contribution to pediatric renal lithiasis. A thorough understanding of cystine transport processes over the past 15 years and the genetic abnormalities responsible for the disease has led to a new classification of cystinuria and recognition that some cases result from an autosomal dominant etiology with incomplete penetrance. This Review examines the molecular and mechanistic effects of some of the mutations that cause cystinuria based on our current understanding of the structural and cellular biology of system b(0,+). This Review also describes the current treatments to prevent recurrent cystine lithiasis.

DrugBank Data that Cites this Article

Drug Transporters
DrugTransporterKindOrganismPharmacological ActionActions
CystineB(0,+)-type amino acid transporter 1ProteinHumans
Unknown
Not AvailableDetails
CystineNeutral and basic amino acid transport protein rBATProteinHumans
Unknown
Not AvailableDetails