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 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.
Muthusethupathi
M A
MA
Department of Nephrology, Madras Medical College and Government General Hospital, Madras, Tamilnadu, India.
Padmanabhan
R
R
Date
A
A
Jayakumar
M
M
Rajendran
S
S
Vijayakumar
R
R
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