Kidney nontumor
Hereditary renal disease
Lecithin-cholesterol acyl transferase deficiency

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 23 March 2018, last major update January 2013

Copyright: (c) 2003-2018,, Inc.

PubMed Search: Lecithin-cholesterol acyl transferase deficiency kidney pathology

Cite this page: Sangle, N. Lecithin-cholesterol acyl transferase deficiency. website. Accessed October 23rd, 2018.
Definition / general
  • 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
Case reports
  • Two brothers with nephrotic syndrome and lecithin cholesterol acyltransferase deficiency (Mod Pathol 1991;4:331)
Microscopic (histologic) description
  • Bubbly thickening of glomerular basement membrane in membranous pattern; mesangial sclerosis and foamy macrophages in capillaries and mesangium
Electron microscopy description
  • Small, solid, thread like or lamellar dense structures in empty appearing lacunae
Electron microscopy images

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Abnormalities with inclusion of lipid droplets

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Glomerular lesions