Longitudinal analysis of clinical and laboratory biomarkers in a patient with familial lecithin: cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: A case study.

Autor: Alfaro G; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Alfaro, Drs Vitali and Cuchel)., Pendyala J; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Pendyala and Dr Sulewski)., Sulewski M; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Pendyala and Dr Sulewski)., Miller M; Corporal Michael J Crescenz Veteran's Affairs Medical Center, Philadelphia, PA, USA (Dr Miller)., Vitali C; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Alfaro, Drs Vitali and Cuchel). Electronic address: cevitali.cevitali@gmail.com., Cuchel M; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Alfaro, Drs Vitali and Cuchel). Electronic address: mcuchel@pennmedicine.upenn.edu.
Jazyk: angličtina
Zdroj: Journal of clinical lipidology [J Clin Lipidol] 2024 Jul-Aug; Vol. 18 (4), pp. e636-e643. Date of Electronic Publication: 2024 Mar 13.
DOI: 10.1016/j.jacl.2024.03.002
Abstrakt: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is an ultra-rare autosomal recessive disease characterized by very low high-density lipoprotein cholesterol (HDL-C) levels, corneal opacity, anemia, and progressive renal disease. The rate and severity of renal disease are variable across FLD patients and the biomarkers and risk factors for disease progression are poorly understood. Here we report a 30 year-long comparative analysis of the clinical and laboratory biomarkers in an FLD patient with accelerated renal decline, who underwent two kidney and one liver transplantations. Results show that elevated triglyceride and non-HDL-C levels may promote the formation of LpX and accelerate renal function decline, whereas markers of anemia may be early predictors. Conversely, corneal opacity progresses at a steady rate and does not correlate with lipid, hematologic, or renal biomarkers. Our study suggests that monitoring of markers of anemia may aid the early detection and timely management of kidney disease with conservative therapies. Furthermore, it suggests that controlling hypercholesterolemia and hypertriglyceridemia may help improve renal disease prognosis.
Competing Interests: Declaration of competing interest The authors have no competing interests to declare.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
Externí odkaz: