Kidney nontumor
Other hereditary renal disease
Lecithin-cholesterol acyl transferase deficiency


Topic Completed: 8 January 2013

Revised: 26 February 2019

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PubMed Search: Lecithin-cholesterol acyl transferase deficiency kidney pathology

Nikhil Sangle, M.D.
Page views in 2019: 40
Page views in 2020 to date: 3
Cite this page: Sangle N. Lecithin-cholesterol acyl transferase deficiency. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneyLCAT.html. Accessed January 18th, 2020.
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)
Treatment
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

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