Abstract
In same patients lipid profile disturbances persist during nephrotic syndrome remission. The aim of the study was to evaluate the impact of the genetic polymorphisms of proteins involved in lipoprotein metabolism on persistent abnormal lipid profile in patients with nephrotic syndrome during remission. 50 patients aged between 5.8 and 16.6 years (mean age 10.45 +/- 3.04) with nephrotic syndrome in remission of at least 8 weeks' duration, including 12 steroid-resistant and 38 steroid-dependent cases, participated in the study. We evalauated associations between lipid profile and genetic polymorphisms, V771M, V8251, and R1587K of the gene encoding the cassette ABCA1 (adenosine triphosphate binding cassette transporter A1) protein synthesis, a E3 polymorphism of the gene encoding the type upsilon of apolipoprotein E (apoE) synthesis and that of the gene encoding the cholesterol ester transfer protein (CETP) synthesis. Dyslipidemia was observed in 10/13 (76.9%) patients with V8251 polymorphism vs. 27/37 (73%) of non-carriers, and in 16/21 (76.2%) patients with R1587K polymorphism vs. 21/29 (72.4%) in the remaining subjects. V771M polymorphism was found only in 2 (4%) patients and one subject had abnormal lipid profile. In the presence of CETP gene polymorphism, hiperlipoproteinemia was detected in 22/31 (71%) vs. 15/19 (78.9%) in the remaining cases. The epsilon3epsilon3 apoE genotype (observed most commonly in the healthy population) was found in the majority (n=35; 70%) of patients. This genotype was also seen in most patients with abnormal serum lipid profile (in 26/37; 70.3%). Analysis of the whole population (ANOVA) did not show significant correlations between parameters of lipid profile and any of the polymorphisms studied. The study did not confirm associations between genetic polymorphisms of ABCA1 transporter, CETP and apoE and abnormal serum lipid profile during remission of nephrotic syndrome.
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