000098312 001__ 98312
000098312 005__ 20230914083316.0
000098312 0247_ $$2doi$$a10.3390/jcm8111860
000098312 0248_ $$2sideral$$a122054
000098312 037__ $$aART-2019-122054
000098312 041__ $$aeng
000098312 100__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.$$uUniversidad de Zaragoza
000098312 245__ $$aLipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
000098312 260__ $$c2019
000098312 5060_ $$aAccess copy available to the general public$$fUnrestricted
000098312 5203_ $$aRenal 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.
000098312 536__ $$9info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe$$9info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBERCV$$9info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBERDEM$$9info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBEROBN$$9info:eu-repo/grantAgreement/ES/MINECO/PI15-01983$$9info:eu-repo/grantAgreement/ES/MINECO/PI18-01777
000098312 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000098312 590__ $$a3.303$$b2019
000098312 591__ $$aMEDICINE, GENERAL & INTERNAL$$b36 / 165 = 0.218$$c2019$$dQ1$$eT1
000098312 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000098312 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000098312 700__ $$aGomez-Coronado, D.
000098312 700__ $$aBlanco-Vaca, F.
000098312 700__ $$aVillafuerte-Ledesma, H.M.
000098312 700__ $$aGil, M.
000098312 700__ $$aAmigo, N.
000098312 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R.$$uUniversidad de Zaragoza
000098312 700__ $$aCenarro, A.
000098312 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000098312 7102_ $$11003$$2027$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Anatom.Embriol.Humana
000098312 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000098312 773__ $$g8, 11 (2019), 1860 [14 pp]$$pJ. clin.med.$$tJournal of Clinical Medicine$$x2077-0383
000098312 8564_ $$s543191$$uhttps://zaguan.unizar.es/record/98312/files/texto_completo.pdf$$yVersión publicada
000098312 8564_ $$s2339096$$uhttps://zaguan.unizar.es/record/98312/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000098312 909CO $$ooai:zaguan.unizar.es:98312$$particulos$$pdriver
000098312 951__ $$a2023-09-13-11:01:07
000098312 980__ $$aARTICLE