Biomaterial Database

Renal failure in familial lecithin-cholesterol acyltransferase deficiency. 1977

E Myhre, and E Gjone, and A Flatmark, and T Hovig

Familial lecithin-cholesterol acyltransferase deficiency is a hereditary disorder of lipid metabolism. Lipid material is deposited in the kidneys, the glomerular capillary basement membrane is irregularly thickened, detachment and even loss of endothelial cells are seen in the glomeruli. Proteinuria was present in 8 out of 9 cases studied, usually it has not been detected before the age of 15-20. After 15-30 years with symptomless proteinuria, terminal renal failure has developed in 6 of the patients. Possible pathogenetic mechanisms of the renal damage is discussed; a large-molecular-weight low-density lipoprotein is suggested to be an important factor.

UI	MeSH Term	Description	Entries
D007676	Kidney Failure, Chronic	The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.	ESRD,End-Stage Renal Disease,Renal Disease, End-Stage,Renal Failure, Chronic,Renal Failure, End-Stage,Chronic Kidney Failure,End-Stage Kidney Disease,Chronic Renal Failure,Disease, End-Stage Kidney,Disease, End-Stage Renal,End Stage Kidney Disease,End Stage Renal Disease,End-Stage Renal Failure,Kidney Disease, End-Stage,Renal Disease, End Stage,Renal Failure, End Stage
D007863	Lecithin Cholesterol Acyltransferase Deficiency	An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.	Dyslipoproteinemic Corneal Dystrophy,Fish-Eye Disease,LCAT Deficiency,LCATA Deficiency,Lecithin:Cholesterol Acyltransferase Deficiency,Norum Disease,alpha-LCAT Deficiency,alpha-Lecithin-Cholesterol Acyltransferase Deficiency,alpha-Lecithin:Cholesterol Acyltransferase Deficiency,Acyltransferase Deficiency, Lecithin:Cholesterol,Corneal Dystrophy, Dyslipoproteinemic,Deficiency, LCAT,Deficiency, alpha-LCAT,Fish Eye Disease,LCATA Deficiencies,alpha LCAT Deficiency
D008052	Lipid Metabolism, Inborn Errors	Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.	Lipid Metabolism, Inborn Error
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000217	Acyltransferases	Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (From Enzyme Nomenclature 1992) EC 2.3.	Acyltransferase
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults