Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
Lamiquiz-Moneo, Itziar (Instituto de Investigación Sanitaria de Aragón)
Civeira, Fernando (Universidad de Zaragoza)
Gómez-Coronado, Diego (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid))
Blanco Vaca, Francisco (Institut d'Investigació Biomèdica Sant Pau)
Villafuerte-Ledesma, Hilda Mercedes (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza)
Gil, Miriam (Biosfer Teslab, Reus)
Amigó, Núria (Hospital Universitari Joan XXIII de Tarragona)
Mateo-Gallego, Rocío (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas)
Cenarro, Ana (Instituto de Investigación Sanitaria de Aragón)
Universitat Autònoma de Barcelona

Date:	2019
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Familial LCAT deficiency ; Fish eye disease ; VLDL ; NMR ; FPLC ; Triglycerides ; Phospholipids
Published in:	Journal of clinical medicine, Vol. 8 (november 2019) , ISSN 2077-0383

DOI: 10.3390/jcm8111860
PMID: 31684177

14 p, 2.0 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles