Nephrotic syndrome, secondary to lecithin-cholesterol acyltransferase deficiency

Case Report

Abstract

The triad of anemia, nephrotic syndrome and corneal opacity suggests lecithin-cholesterol acyltransferase (LCAT) deficiency, family autosomal recessive disorder that is studied with increased levels of phosphatidylcholine, unesterified cholesterol in the blood and with the formation of an abnormal lipoprotein ( lipoprotein X ). Accumulation of lipid component occurs in both, intracellular and extra cellular sites. We report a case of Nephrotic Syndrome and Chronic renal failure in stage 3 with corneal opacity, non hemolytic anemia, cholesterol HDL reduced, high triglycerides and renal biopsy with basement membranes 1666 NM showing intramembranous lacunae that seem to contain bubbles and have a vacuolated appearance.