Hereditary renal disease
Lecithin-cholesterol acyl transferase deficiency
Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 10 January 2013, last major update August 2012
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● Lecithin cholesterol acyltransferase (LCAT) is crucial to maturation of high-density lipoprotein (HDL)
● Homozygosity causes deficiency of HDL-cholesterol (HDL-c); heterozygotes have half normal HDL-c levels
● Usually but not always due to mutations in coding sequence (Hum Mutat 2011;32:1290, Clin Nephrol 2011;76:323)
● Associated with nephrotic syndrome
● Two affected brothers (Mod Pathol 1991;4:331)
● Control of blood pressure and lifestyle measures to optimize non HDL lipoproteins (J Clin Lipidol 2011;5:493)
● Bubbly thickening of glomerular basement membrane in membranous pattern, mesangial sclerosis and foamy macrophages in capillaries and mesangium
Characterization of accumulated materials in glomeruli
Electron microscopy description
● Small, solid, thread-like or lamellar dense structures in empty-appearing lacunae
Electron microscopy images
Membrane-like deposits in glomerular lesions
Abnormalities with inclusion of lipid droplets
End of Kidney non-tumor > Hereditary renal disease > Lecithin-cholesterol acyl transferase deficiency
Ref Updated: 6/14/12
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