Linked Life Data

634418

Source:http://linkedlifedata.com/resource/pubmed/id/634418

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1978-5-17
pubmed:abstractText
One case of lecithin cholesterol acyltransferase (LCAT) deficiency is discovered by renal biopsy. Through the study of a French family, native to Brittany, one sister is found to be carrier of the trait. This finding suggests that the gene defect hitherto reported from Scandinavia is not restricted to this region. The patient shows typical signs of the disease, corneal opacities, anemia with a hemolytic component and lack of plasma LCAT activity. She has proteinuria, HTA, hematuria, no renal insufficiency. Signs previously unreported were noted: sensorineural hearing loss and platelet environment disorder. Histological abnormalities of two types are found: foam cells and subendothelial deposits, of which the tinctorial characteristics indicate a lipid composition. The lack of glomerular fluorescent staining observed is not in favor of an immune complex nephropathy. The study of this case suggests the determining role of lipid abnormalities in the genesis of anemia and of the vascular depositions in the induction of renal failure encountered in several cases of LCAT deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0028-2766
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
212-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters.
pubmed:publicationType
Journal Article, Case Reports