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Kidney non-tumor

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
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.

General
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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

Case reports
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● Two affected brothers (Mod Pathol 1991;4:331)

Treatment
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● Control of blood pressure and lifestyle measures to optimize non HDL lipoproteins (J Clin Lipidol 2011;5:493)

Micro description
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● Bubbly thickening of glomerular basement membrane in membranous pattern, mesangial sclerosis and foamy macrophages in capillaries and mesangium

Micro images
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Characterization of accumulated materials in glomeruli

Electron microscopy description
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● Small, solid, thread-like or lamellar dense structures in empty-appearing lacunae

Electron microscopy images
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Membrane-like deposits in glomerular lesions


Abnormalities with inclusion of lipid droplets

   
Glomerular lesions

End of Kidney non-tumor > Hereditary renal disease > Lecithin-cholesterol acyl transferase deficiency

Ref Updated: 6/14/12


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