Linked Life Data

15499206

Source:http://linkedlifedata.com/resource/pubmed/id/15499206

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-10-22
pubmed:abstractText
Cystinuria is an inherited form of nephrolithiasis due to failure of reabsorptive transport in the proximal tubule. Patients with classical recessive cystinuria have inherited two mutations of the SLC3A1 gene, encoding a subunit of the transport mechanism. Patients with the dominant form of cystinuria have inherited two mutations of the SLC7A9 gene, encoding the transport channel itself. A smaller subset of patients have mixed-type cystinuria, combining recessive and dominant mutant alleles. Children at risk for nephrolithiasis can be identified by the level of urinary cystine only after tubular transport has matured (age 2 years). Conservative therapy with high urine volume and urinary alkalinization is sufficient for some, but recurrent stone formation may cause renal damage and warrants prophylaxis with agents that form mixed disulfides with cystine.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1660-2129
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2004 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e45-9
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
The molecular basis of cystinuria.
pubmed:affiliation
Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Canada. Paul.Goodyer@muhc.mcgill.ca <Paul.Goodyer@muhc.mcgill.ca>
pubmed:publicationType
Journal Article, Review