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Open AccessArticle

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

Lipid Unit, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), CIBER Cardiovascular (CIBERCV), 50009 Zaragoza, Spain
Department of Internal Medicine, Psychiatry and Dermatology, Universidad de Zaragoza, 50009 Zaragoza, Spain
Department of Biochemistry-Research, Hospital Universitario Ramón y Cajal, IRYCIS, CIBER de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), 28034 Madrid, Spain
Hospital de la Santa Creu i Sant Pau, Servicio de Bioquímica - IIB Sant Pau, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Departament of Biochemistry and Molecular Biology, Universidad Autónoma de Barcelona, 08041 Barcelona, Spain
Nephrology Department, Hospital Clínico Universitario Lozano Blesa, IIS Aragón, 50009 Zaragoza, Spain
Biosfer Teslab, SL, 43201 Reus, Spain
Metabolomics Platform, Universidad Rovira i Virgili (URV), Instituto de Investigación Sanitaria Pere Virigili (IISPV), 43003 Tarragona, CIBER de diabetes y enfermedades metabólicas asociadas (CIBERDEM), 28029 Madrid, Spain
Department of Physiatry and Nursing, Universidad de Zaragoza, 50009 Zaragoza, Spain
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(11), 1860;
Received: 8 October 2019 / Revised: 28 October 2019 / Accepted: 30 October 2019 / Published: 3 November 2019
(This article belongs to the Section Nephrology & Urology)
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.
Keywords: familial LCAT deficiency; fish eye disease; VLDL; NMR; FPLC; triglycerides; phospholipids familial LCAT deficiency; fish eye disease; VLDL; NMR; FPLC; triglycerides; phospholipids
MDPI and ACS Style

Lamiquiz-Moneo, I.; Civeira, F.; Gómez-Coronado, D.; Blanco-Vaca, F.; Villafuerte-Ledesma, H.M.; Gil, M.; Amigó, N.; Mateo-Gallego, R.; Cenarro, A. Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency. J. Clin. Med. 2019, 8, 1860.

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