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Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Renal complications are the major cause of morbidity and mortality in patients with familial lecithin–cholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings—only one of whom developed renal disease—and the third case being a young man with early renal...

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Autores principales: Lamiquiz-Moneo, Itziar, Civeira, Fernando, Gómez-Coronado, Diego, Blanco-Vaca, Francisco, Villafuerte-Ledesma, Hilda Mercedes, Gil, Miriam, Amigó, Nuria, Mateo-Gallego, Rocío, Cenarro, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912718/
https://www.ncbi.nlm.nih.gov/pubmed/31684177
http://dx.doi.org/10.3390/jcm8111860
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author Lamiquiz-Moneo, Itziar
Civeira, Fernando
Gómez-Coronado, Diego
Blanco-Vaca, Francisco
Villafuerte-Ledesma, Hilda Mercedes
Gil, Miriam
Amigó, Nuria
Mateo-Gallego, Rocío
Cenarro, Ana
author_facet Lamiquiz-Moneo, Itziar
Civeira, Fernando
Gómez-Coronado, Diego
Blanco-Vaca, Francisco
Villafuerte-Ledesma, Hilda Mercedes
Gil, Miriam
Amigó, Nuria
Mateo-Gallego, Rocío
Cenarro, Ana
author_sort Lamiquiz-Moneo, Itziar
collection PubMed
description Renal complications are the major cause of morbidity and mortality in patients with familial lecithin–cholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings—only one of whom developed renal disease—and 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.
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spelling pubmed-69127182020-01-02 Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency Lamiquiz-Moneo, Itziar Civeira, Fernando Gómez-Coronado, Diego Blanco-Vaca, Francisco Villafuerte-Ledesma, Hilda Mercedes Gil, Miriam Amigó, Nuria Mateo-Gallego, Rocío Cenarro, Ana J Clin Med Article Renal complications are the major cause of morbidity and mortality in patients with familial lecithin–cholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings—only one of whom developed renal disease—and 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. MDPI 2019-11-03 /pmc/articles/PMC6912718/ /pubmed/31684177 http://dx.doi.org/10.3390/jcm8111860 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lamiquiz-Moneo, Itziar
Civeira, Fernando
Gómez-Coronado, Diego
Blanco-Vaca, Francisco
Villafuerte-Ledesma, Hilda Mercedes
Gil, Miriam
Amigó, Nuria
Mateo-Gallego, Rocío
Cenarro, Ana
Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title_full Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title_fullStr Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title_full_unstemmed Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title_short Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
title_sort lipid profile rather than the lcat mutation explains renal disease in familial lcat deficiency
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912718/
https://www.ncbi.nlm.nih.gov/pubmed/31684177
http://dx.doi.org/10.3390/jcm8111860
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