98312 20230914083316.0 doi 10.3390/jcm8111860 sideral 122054 ART-2019-122054 eng Lamiquiz-Moneo, I. Universidad de Zaragoza (orcid)0000-0002-9647-0108 Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency 2019 Access copy available to the general public Unrestricted 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. info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBERCV info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBERDEM info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBEROBN info:eu-repo/grantAgreement/ES/MINECO/PI15-01983 info:eu-repo/grantAgreement/ES/MINECO/PI18-01777 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 3.303 2019 MEDICINE, GENERAL & INTERNAL 36 / 165 = 0.218 2019 Q1 T1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Civeira, F. Universidad de Zaragoza (orcid)0000-0001-7043-0952 Gomez-Coronado, D. Blanco-Vaca, F. Villafuerte-Ledesma, H.M. Gil, M. Amigo, N. Mateo-Gallego, R. Universidad de Zaragoza (orcid)0000-0001-6650-8294 Cenarro, A. 1006 255 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Enfermería 1003 027 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Anatom.Embriol.Humana 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 8, 11 (2019), 1860 [14 pp] J. clin.med. Journal of Clinical Medicine 2077-0383 543191 http://zaguan.unizar.es/record/98312/files/texto_completo.pdf Versión publicada 2339096 http://zaguan.unizar.es/record/98312/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:98312 articulos driver 2023-09-13-11:01:07 ARTICLE