Issue: 2013 > January > case report

Familial LCAT deficiency: from renal replacement to enzyme replacement

R.M. Stoekenbroek, M.A. van den Bergh Weerman, G.K. Hovingh, B.J. Potter van Loon, C.E.H. Siegert, A.G. Holleboom


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.