Linked Life Data

7156322

Source:http://linkedlifedata.com/resource/pubmed/id/7156322

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
204
pubmed:dateCreated
1983-3-11
pubmed:abstractText
Familial lecithin cholesterol acyltransferase (LCAT) deficiency is a rare inherited enzyme deficiency characterized by widespread disturbance of lipid metabolism and infiltration of many organs, including kidneys by lipids; usually it results in death from renal failure in the fourth or fifth decades. We have described a new family with LCAT deficiency and have studied three sisters with characteristic corneal opacities and no detectable plasma LCAT activity, together with eight obligate heterozygotes who have reduced LCAT activity but are phenotypically normal. All three sisters had the typical lipid abnormalities including large molecular weight particles in the low density lipoprotein (LDL) fraction of plasma previously described only in LCAT deficient patients with renal disease. However, only the youngest sister had proteinuria and renal failure. Renal biopsies from two of the sisters were infiltrated with lipid but the biopsy from the youngest contained electron dense deposits indistinguishable from those seen in immune complex disease. These findings cast doubt on the concept that large molecular weight LDL particles are the sole determinants of renal failure in LCAT deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0033-5622
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
411-26
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Renal failure in familial lecithin: cholesterol acyltransferase deficiency.
pubmed:publicationType
Journal Article, Case Reports