Linked Life Data

15500372

Source:http://linkedlifedata.com/resource/pubmed/id/15500372

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2004-10-25
pubmed:databankReference
pubmed:abstractText
Cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. This gene codes for a lysosomal cystine transporter, whose absence leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood and other systemic complications. Before the availability of kidney transplantation, patients affected with cystinosis uniformly died during childhood. After solid organ transplantations became successful in the 1960s, cystinosis patients survived, but eventually developed life-threatening consequences of the disease (e.g., swallowing disorders). Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function. Oral cysteamine therapy is given at doses of 60 - 90 mg/kg/day q.i.d. every 6 h, and generally achieves approximately 90% depletion of cellular cystine, as measured in circulating leucocytes. Cysteamine (and kidney transplantation) have commuted the death sentence of cystinosis into a nearly normal life with a chronic disease. Because treatment with oral cysteamine can prevent, or significantly delay, the complications of cystinosis, early and accurate diagnosis, as well as proper treatment, is critical.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1744-7666
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2255-62
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Pharmacological treatment of nephropathic cystinosis with cysteamine.
pubmed:affiliation
NHGRI, Building 10, Room 10C-107, MSC 1851, 10 Center Drive, Bethesda, MD 20892, USA. kletar@mail.nih.go
pubmed:publicationType
Journal Article, Review