| Title : Familial LCAT deficiency: from renal replacement to enzyme replacement - Stoekenbroek_2013_Neth.J.Med_71_29 |
| Author(s) : Stoekenbroek RM , van den Bergh Weerman MA , Hovingh GK , Potter van Loon BJ , Siegert CE , Holleboom AG |
| Ref : Neth J Med , 71 :29 , 2013 |
|
Abstract :
Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development. |
| PubMedSearch : Stoekenbroek_2013_Neth.J.Med_71_29 |
| PubMedID: 23412821 |
| Gene_locus related to this paper: human-LCAT |
| Mutation | T321M_human-LCAT |
| Gene_locus | human-LCAT |
| Disease | Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED) |
Stoekenbroek RM, van den Bergh Weerman MA, Hovingh GK, Potter van Loon BJ, Siegert CE, Holleboom AG (2013)
Familial LCAT deficiency: from renal replacement to enzyme replacement
Neth J Med
71 :29
Stoekenbroek RM, van den Bergh Weerman MA, Hovingh GK, Potter van Loon BJ, Siegert CE, Holleboom AG (2013)
Neth J Med
71 :29