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