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Genetic basis of selected chronic nephropathies
Šafránková, Hana ; Merta, Miroslav (advisor) ; Otová, Berta (referee) ; Teplan, Vladimír (referee)
Keywords: nephrotic syndrome, FSGS, MCD, podocin, NPHS2, VEGF polymorphisms Nephrotic syndrome (NS), caused by minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) has about 20% of the genetic background caused by mutations in the NPHS2 gene encoding protein podocin that plays an important role in the kidney filtration barrier. The aim of this work is to introduce mutation analysis of the NPHS2 gene and to examine the sample of Czech patients with NS. We examined 71 patients with FSGS/MCD and subsequently, on the basis of these data we tested two common polymorphisms in NPHS2 (p.R229Q and p.P20L) in the group of patients with different glomerulonephritides (GN): IgA nephropathy (IGAN) (n = 169), membranous GN (MGN) (n = 46) and control group (n = 300). We also examined two polymorphisms located in the promoter of vascular endothelial growth factor (VEGF) (-2578 A/C, -1154 A/G) and influencing the level of its expression. VEGF is produced by specialized kidney cells called podocytes and has a function in the formation of blood vessels and capillary fenestration. The sample included 56 patients (pts) with FSGS/MCD, 113 pts with IGAN, 44 pts with MGN and 311 controls. No mutation in NPHS2 gene was found in patients with FSGS/MCD arising in adulthood. We detected one homozygous...
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