| Title : Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India - Muthusethupathi_1999_Nephron_81_89 |
| Author(s) : Muthusethupathi MA , Padmanabhan R , Date A , Jayakumar M , Rajendran S , Vijayakumar R |
| Ref : Nephron , 81 :89 , 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. |
| PubMedSearch : Muthusethupathi_1999_Nephron_81_89 |
| PubMedID: 9884427 |
Muthusethupathi MA, Padmanabhan R, Date A, Jayakumar M, Rajendran S, Vijayakumar R (1999)
Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India
Nephron
81 :89
Muthusethupathi MA, Padmanabhan R, Date A, Jayakumar M, Rajendran S, Vijayakumar R (1999)
Nephron
81 :89