Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.

Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease. J Assoc Physicians India. 2017 Oct;65(10):90-91 Authors: Gopalakrishnan N, Arul R, Dhanapriya J, Kumar TD, Sakthirajan R, Balasubramaniyan T Abstract Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia and very low plasma levels of HDL. We here report a 34 year-old lady who presented with hypertension, nephrotic proteinuria, renal failure, corneal ring opacities, anemia and dyslipidemia. The diagnosis of familial LCAT deficiency was confirmed by clinical examination, characteristic dyslipidemia, undetectable LCAT levels in plasma and positive family history. PMID: 29319258 [PubMed - in process]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research