Related Experiment Videos
Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from
M A Muthusethupathi1, R Padmanabhan, A Date
1Department of Nephrology, Madras Medical College and Government General Hospital, Madras, Tamilnadu, India.
Nephron
|January 13, 1999
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.