Lecithin-Cholesterol Acyl Transferase (LCAT) is associated with a glomerulopathy which eventually leads to chronic renal failure.
The initial manifestation is proteinuria which occasionally may reach levels of the nephrotic syndrome.
Features:
(1) low serum HDL-cholesterol
(2) serum Lipoprotein X (LpX) which is a cholesterol-rich multilamellar particle
(3) glomerulopathy
(4) corneal opacities
(5) unexplained anemia
Features of glomerulopathy:
(1) initially there is mesangial expansion and thickening of the glomerular basement membrane (GBM)
(2) focal segmental glomerulosclerosis progresses to diffuse glomerulosclerosis
(3) foamy lipid deposits in the GBM containing Lipoprotein X
(4) diffuse tubular atrophy with thickening of the tubular basement membranes
Over time the nephropathy progresses to end-stage renal disease (ESRD).
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Specialty: Nephrology, Endocrinology
