Society of Diabetic Nephropathy Prevention Journal of Nephropharmacology 2345-4202 6 1 2017 01 01 An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level 23 26 EN Manish R Balwani Vijaykumar A Ghodela Vivek B Kute Pankaj R Shah Himanshu V Patel Dinesh N Gera Aruna Vanikar Hargovind L Trivedi Journal Article Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels.