title: Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India.
abstract: We encountered 2 siblings with corneal opacities, anemia, decreased concentration of plasma esterified cholesterol, chronic renal failure and markedly reduced levels of plasma lecithin:cholesterol acyltransferase. Renal biopsy in 1 patient showed clear lacunae containing characteristic dense bodies in the glomerular and tubular basement membranes and the interstitium. One of the 2 siblings received a kidney transplant and is doing well after 9 years. This is the first report of this rare metabolic disease from India.
authors.affiliation: Department of Nephrology, Madras Medical College and Government General Hospital, Madras, Tamilnadu, India.
authors.forename: M A
authors.initials: MA
authors.lastname: Muthusethupathi
authors.forename: R
authors.initials: R
authors.lastname: Padmanabhan
authors.forename: A
authors.initials: A
authors.lastname: Date
authors.forename: M
authors.initials: M
authors.lastname: Jayakumar
authors.forename: S
authors.initials: S
authors.lastname: Rajendran
authors.forename: R
authors.initials: R
authors.lastname: Vijayakumar
mesh_terms: D000328:Adult; D003318:Corneal Opacity / Q000150:complications / Q000235:genetics; D005451:Fluorescein Angiography; D006801:Humans; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000235:genetics; D007677:Kidney Function Tests; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications* / Q000235:genetics; D008297:Male