title: Familial LCAT deficiency: from renal replacement to enzyme replacement.
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.
authors: Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.
authors: R M
authors: RM
authors: Stoekenbroek
authors: M A
authors: MA
authors: van den Bergh Weerman
authors: G K
authors: GK
authors: Hovingh
authors: B J
authors: BJ
authors: Potter van Loon
authors: C E H
authors: CE
authors: Siegert
authors: A G
authors: AG
authors: Holleboom
mesh_terms: D000328:Adult; D018450:Disease Progression; D056947:Enzyme Replacement Therapy / Q000639:trends; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017582:Renal Replacement Therapy