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Nephrol Dial Transplant (2004) 19: 1622-1624
Nephrol Dial Transplant Vol. 19 No. 6 © ERA-EDTA 2004; all rights reserved

Case Report

A 33-year-old man with nephrotic syndrome and lecithin–cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene

Giovanni M. Frascà1, Letizia Soverini1, Elena Tampieri1, Guido Franceschini2, Laura Calabresi2, Livia Pisciotta4, Paola Preda3, Alba Vangelista1, Sergio Stefoni1 and Stefano Bertolini4

1Nephrology, Dialysis and Renal Transplantation Unit and 3Electron Microscopy Unit, Pathology Department, St Orsola University Hospital, Bologna, 2Centro E. Grossi Paoletti, Department of Pharmacological Sciences, University of Milano and 4Internal Medicine Department, Genova, Italy

Correspondence and offprint requests to: Giovanni M. Frasca, MD, Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, Via Massarenti 9, 40137 Bologna, Italy. Email: frasca@orsola-malpighi.med.unibo.it

Keywords: chronic renal failure; focal segmental glomerulosclerosis; genetic diseases; hereditary nephropathies; lecithin–cholesterol acyltransferase (LCAT) deficiency; nephrotic syndrome

The first 10% of the full text of this article appears below.



   Introduction
 
Familial lecithin–cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disease caused by mutation in the LCAT gene, located on chromosome 16q22 (GenBank accession nos: genomic DNA X04981, cDNA NM_000229). LCAT catalyses the formation of cholesteryl esters via the hydrolysis and transfer of sn-2 fatty acid from phosphatidylcholine to the 3-hydroxyl group of cholesterol. A deficiency of this enzyme leads to increased levels of phosphatidylcholine and unesterified cholesterol in the blood and to the formation of an abnormal lipoprotein (called ‘lipoprotein-X’) rich in both phosphatidylcholine and unesterified cholesterol. As a consequence, progressive lipid deposition occurs in various tissues, including the kidney [1], resulting in progressive glomerular sclerosis which becomes clinically manifest in the third to fourth decade of life and eventually leads to end-stage renal disease [2].

To date, 13 affected families have been found in Italy (including the one . . . [Full Text of this Article]



   Case
 


   Discussion
 

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