Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort

Journal of Lipid Research

Fabrizio Veglia¹  Chiara Pavanello²  Alice Ossoli²  Laura Calabresi²  Laura D'Erasmo³  Marcello Arca³  Tiziana Sampietro⁴  Tiziano Lucchi⁵  Giuliano Boscutti⁶  Loreto Gesualdo⁷ 

[1] Centro Cardiologico Monzino, IRCCS, Milan, Italy;Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy;Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy;Lipoapheresis Unit and Reference Center for Inherited Dyslipidemias, Fondazione Toscana Gabriele Monasterio, Pisa, Italy;Metabolic Disease Clinic, Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy;Nephrology, Dialysis and Transplantation Unit, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy;Nephrology, Dialysis, and Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy;

关键词: lecithin:cholesterol acyltransferase;    renal disease;    lipoproteins;    high density lipoprotein;    cholesterol/metabolism;    familial lecithin:cholesterol acyltransferase deficiency;   

DOI  :  

来源: DOAJ

【 摘 要 】

Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the LCAT gene and characterized by a variety of symptoms including corneal opacities and kidney failure. Renal disease represents the leading cause of morbidity and mortality in FLD cases. However, the prognosis is not known and the rate of deterioration of kidney function is variable and unpredictable from patient to patient. In this article, we present data from a follow-up of the large Italian cohort of FLD patients, who have been followed for an average of 12 years. We show that renal failure occurs at the median age of 46 years, with a median time to a second recurrence of 10 years. Additionally, we identify high plasma unesterified cholesterol level as a predicting factor for rapid deterioration of kidney function. In conclusion, this study highlights the severe consequences of FLD, underlines the need of correct early diagnosis and referral of patients to specialized centers, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.

【 授权许可】

Unknown