Abstract

MARIN, Gustavo; TORRES, José; LOPEZ, Rocío  and  ANDRADE, Rafael. Nephrotic syndrome, secondary to lecithin-cholesterol acyltransferase deficiency: Case report. Acta Med Colomb [online]. 2006, vol.31, n.4, pp.422-426. ISSN 0120-2448.

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.

Keywords : nephrotic syndrome; lecithin-cholesterol acyltransferase (LCAT) deficiency; lipoprotein- X.

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