A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene. |
| |
| Authors: | Giovanni M Frascà Letizia Soverini Elena Tampieri Guido Franceschini Laura Calabresi Livia Pisciotta Paola Preda Alba Vangelista Sergio Stefoni Stefano Bertolini |
| |
| Affiliation: | Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, Via Massarenti 9, 40137 Bologna, Italy. frasca@orsola-malpighi.med.unibo.it |
| |
| Abstract: | | Introduction | Familial lecithincholesterol acyltransferase (LCAT) deficiencyis a rare autosomal recessive disease caused by mutation inthe LCAT gene, located on chromosome 16q22 (GenBank accessionnos: genomic DNA X04981, cDNA NM_000229). LCAT catalyses theformation of cholesteryl esters via the hydrolysis and transferof sn-2 fatty acid from phosphatidylcholine to the 3-hydroxylgroup of cholesterol. A deficiency of this enzyme leads to increasedlevels of phosphatidylcholine and unesterified cholesterol inthe blood and to the formation of an abnormal lipoprotein (calledlipoprotein-X) rich in both phosphatidylcholineand unesterified cholesterol. As a consequence, progressivelipid deposition occurs in various tissues, including the kidney[1], resulting in progressive glomerular sclerosis which becomesclinically manifest in the third to fourth decade of life andeventually leads to end-stage renal disease [2]. To date, 13 affected families have been found in Italy (includingthe one
| |
| Keywords: | chronic renal failure focal segmental glomerulosclerosis genetic diseases hereditary nephropathies lecithin– cholesterol acyltransferase (LCAT) deficiency nephrotic syndrome |
| 本文献已被 Oxford 等数据库收录！ |
|
