Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
|
pubmed:dateCreated |
1979-3-28
|
pubmed:abstractText |
A case of adolescent cystinosis in a 17 1/2 year-old boy is reported. The metabolic disorder was diagnosed at the age of 13 years. Cystine was demonstrated in cornea and bone marrow and was increased in fibroblasts (3.64 nMol 1/2-cystine/mg protein). The renal lesions were characteristic of mesangioproliferative glomerulonephritis. The rate of detoriation in renal function increased from 1.5 to 6.6 mg/100 ml serum creatinine during the time of follow up. As well as the parents one brother (0.51 nMol 1/2-cystine/mg protein) appears to be a heterozygote carrier of the cystinosis gene. The striking features in adolescent cystinosis were shown by a review of the literature and the present case report.
|
pubmed:language |
ger
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
|
pubmed:issn |
0300-8630
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
191
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
8-19
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:569738-Adolescent,
pubmed-meshheading:569738-Age Factors,
pubmed-meshheading:569738-Bone Marrow,
pubmed-meshheading:569738-Cornea,
pubmed-meshheading:569738-Creatinine,
pubmed-meshheading:569738-Cystine,
pubmed-meshheading:569738-Cystinosis,
pubmed-meshheading:569738-Fibroblasts,
pubmed-meshheading:569738-Humans,
pubmed-meshheading:569738-Kidney Failure, Chronic,
pubmed-meshheading:569738-Male
|
pubmed:year |
1979
|
pubmed:articleTitle |
[Adolescent cystinosis. Review of the literature and case report (author's transl)].
|
pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|