INTRODUCTION: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism characterized by the absence of high density lipoprotein (HDL) and the triad of corneal opacification, hemolytic anemia and glomerulopathy. PATIENTS: We here report on FLD in three siblings of a kindred of Moroccan descent with HDL deficiency. In all cases (17, 12 and 3 years of age) corneal opacification and proteinuria were observed. In the 17-year-old female proband, anemia with target cells was observed. RESULTS: Homozygosity for a mutation in LCAT resulted in the exchange of cysteine to tyrosine at position 337, disrupting the second disulfide bond in LCAT. LCAT protein and activity were undetectable in the patients' plasma and in media of COS7 cells transfected with an expression vector with mutant LCAT cDNA. Upon treatment with an ACE inhibitor and a thiazide diuretic, proteinuria in the proband decreased from 6g to 2g/24h. CONCLUSION: This is the first report that FLD can cause nephropathy at a very early age.
INTRODUCTION: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism characterized by the absence of high density lipoprotein (HDL) and the triad of corneal opacification, hemolytic anemia and glomerulopathy. PATIENTS: We here report on FLD in three siblings of a kindred of Moroccan descent with HDL deficiency. In all cases (17, 12 and 3 years of age) corneal opacification and proteinuria were observed. In the 17-year-old female proband, anemia with target cells was observed. RESULTS: Homozygosity for a mutation in LCAT resulted in the exchange of cysteine to tyrosine at position 337, disrupting the second disulfide bond in LCAT. LCAT protein and activity were undetectable in the patients' plasma and in media of COS7 cells transfected with an expression vector with mutant LCAT cDNA. Upon treatment with an ACE inhibitor and a thiazide diuretic, proteinuria in the proband decreased from 6g to 2g/24h. CONCLUSION: This is the first report that FLD can cause nephropathy at a very early age.
Authors: Adriaan G Holleboom; Georgios Daniil; Xiaoming Fu; Renliang Zhang; G Kees Hovingh; Alinda W Schimmel; John J P Kastelein; Erik S G Stroes; Joseph L Witztum; Barbara A Hutten; Sotirios Tsimikas; Stanley L Hazen; Angeliki Chroni; Jan Albert Kuivenhoven Journal: Arterioscler Thromb Vasc Biol Date: 2012-09-27 Impact factor: 8.311
Authors: Derek E Piper; William G Romanow; Ruwanthi N Gunawardane; Preston Fordstrom; Stephanie Masterman; Oscar Pan; Stephen T Thibault; Richard Zhang; David Meininger; Margrit Schwarz; Zhulun Wang; Chadwick King; Mingyue Zhou; Nigel P C Walker Journal: J Lipid Res Date: 2015-07-20 Impact factor: 5.922
Authors: Roopa Mehta; Daniel Elías-López; Alexandro J Martagón; Oscar A Pérez-Méndez; Maria Luisa Ordóñez Sánchez; Yayoi Segura; Maria Teresa Tusié; Carlos A Aguilar-Salinas Journal: Lipids Health Dis Date: 2021-07-13 Impact factor: 3.876