Document Detail

Pathophysiology and treatment of cystinuria.
MedLine Citation:
PMID:  20517292     Owner:  NLM     Status:  MEDLINE    
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.
Josep Chillarón; Mariona Font-Llitjós; Joana Fort; Antonio Zorzano; David S Goldfarb; Virginia Nunes; Manuel Palacín
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2010-06-01
Journal Detail:
Title:  Nature reviews. Nephrology     Volume:  6     ISSN:  1759-507X     ISO Abbreviation:  Nat Rev Nephrol     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-29     Completed Date:  2010-10-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101500081     Medline TA:  Nat Rev Nephrol     Country:  England    
Other Details:
Languages:  eng     Pagination:  424-34     Citation Subset:  IM    
Department of Physiology, Faculty of Biology, Universitat de Barcelona, Diagonal 645, Barcelona 08028, Spain.
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MeSH Terms
Cystinuria / genetics,  physiopathology*,  therapy*
Recurrence / prevention & control
Urinary Calculi / genetics,  physiopathology*,  therapy*
Grant Support
1U54DK083908-01/DK/NIDDK NIH HHS

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