%0 Journal Article
%T Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
%A Ana Cenarro
%A Diego G¨®mez-Coronado
%A Fernando Civeira
%A Francisco Blanco-Vaca
%A Hilda Mercedes Villafuerte-Ledesma
%A Itziar Lamiquiz-Moneo
%A Miriam Gil
%A Nuria Amig¨®
%A Roc¨ªo Mateo-Gallego
%J Journal of Clinical Medicine | An Open Access Journal from MDPI
%D 2019
%R https://doi.org/10.3390/jcm8111860
%X Renal complications are the major cause of morbidity and mortality in patients with familial lecithin¨Ccholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings¡ªonly one of whom developed renal disease¡ªand the third case being a young man with early renal disease. The aim of this study was to analyze the clinical characteristics and possible mechanisms associated with renal disease in these patients. Plasma lipid levels, LCAT activity, lipoprotein particle profile by NMR and FPLC, free and esterified cholesterol, presence of lipoprotein X (LpX) and DNA sequencing in the three FLD patients have been determined. The three cases presented clinical characteristics of FLD, although only one of the siblings developed renal disease, at 45 years of age, while the other patient developed the disease in his youth. Genetic analysis revealed new missense homozygous mutations, p.(Ile202Thr) in both siblings and p.(Arg171Glu) in the other patient. Lipoprotein particle analysis showed that the two patients with renal disease presented higher numbers of small very low-density lipoprotein (VLDL) and a higher concentration of triglycerides in VLDL. This study reports three new cases of LCAT deficiency, not previously described. Renal disease is not only dependent on LCAT deficiency, and could be due to the presence of VLDL particles, which are rich in triglycerides, free cholesterol and LpX
%U https://www.mdpi.com/2077-0383/8/11/1860