Lipid Profile Rather Than the
FPLC
NMR
VLDL
familial LCAT deficiency
fish eye disease
phospholipids
triglycerides
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
03 Nov 2019
03 Nov 2019
Historique:
received:
08
10
2019
revised:
28
10
2019
accepted:
30
10
2019
entrez:
6
11
2019
pubmed:
7
11
2019
medline:
7
11
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31684177
pii: jcm8111860
doi: 10.3390/jcm8111860
pmc: PMC6912718
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI15/01983, PI18/01777, CIBERCV, CIBERDEM and CIBEROBN
Déclaration de conflit d'intérêts
N.A. is a stock owner of Biosfer Teslab, and has a patent for an NMR method for lipoprotein characterization. The authors declare no conflict of interest.
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