Familial lecithin : cholesterol acyltransferase deficiency with renal failure in two siblings - First case report from India

We encountered 2 siblings with corneal opacities, anemia, decreased concent ration of plasma esterified cholesterol, chronic renal failure and markedly reduced levels of plasma lecithin:cholesterol acyltransferase. Renal biops y 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 ye ars. This is the first report of this rare metabolic disease from India.