title: Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.
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.
authors.affiliation: Head of Department, Department of Nephrology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu.
authors.forename: N
authors.initials: N
authors.lastname: Gopalakrishnan
authors.affiliation: Assistant Professor, Department of Nephrology, Coimbatore Medical College, Coimbatore, Tamil Nadu.
authors.forename: R
authors.initials: R
authors.lastname: Arul
authors.affiliation: Assistant Professor.
authors.forename: J
authors.initials: J
authors.lastname: Dhanapriya
authors.affiliation: Assistant Professor.
authors.forename: T Dinesh
authors.initials: TD
authors.lastname: Kumar
authors.affiliation: Assistant Professor.
authors.forename: R
authors.initials: R
authors.lastname: Sakthirajan
authors.affiliation: Professor, Department of Nephrology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu.
authors.forename: T
authors.initials: T
authors.lastname: Balasubramaniyan
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications* / Q000235:genetics; D051436:Renal Insufficiency, Chronic / Q000150:complications*