Home Bratislava Medical Journal 2019 Bratislava Medical Journal Vol.120, No.2, p.102–105, 2019

Journal info


 


Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345
 

Aims and Scope
Editorial Info
Submission Guidelines

Select Journal







Webshop Cart

Your Cart is currently empty.

Info: Your browser does not accept cookies. To put products into your cart and purchase them you need to enable cookies.

Bratislava Medical Journal Vol.120, No.2, p.102–105, 2019

Title: NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis
Author: R. Baylarov, R. Baylarova, A. Berdeli, R. Bayramov, E. Haziyev

Abstract: OBJECTIVES: The aim of the study was to determine the mutation of the podocin gene (NPHS2) in children with minimal changes diseases (steroid sensitive nephrotic syndrome (NS)) and steroid resistant NS.
BACKGROUND: Despite the fact that the role of genetic factors is a well-known phenomenon, in NS there are still unknown aspects that are yet to be discovered. NS, type 2 is caused by NPHS2 gene and is characterised with proteinuria, minimal change disease on renal biopsy, poor response to steroid treatment, etc.
METHODS: Twenty-nine children (65.5 % male, 34.5 % female) with nephrotic syndrome caused by chronic glomerulonephritis were examined and patients were tested for NPHS2 gene with Sanger technique.
RESULTS: The average age was 7.2 ± 2.65 years. 82.8 % of patients had NS with minimal changes, 17.2 % had a steroid resistant NS. The analysis of the NPHS2 gene revealed a likely pathogenic (Arg168His), uncertain significance (Pro20Ley, Leu169Pro, Val180Met, Arg229Gln, Val290Met) and benign (Gly34Gly, Ala318Ala) variants. No novel variants were detected.
CONCLUSION: This is the first study investigating the nephrotic syndrome related to NPHS2 gene in Azerbaijani population. The high prevalence of uncertain significance variants emphasises the importance of population studies in this region as such data are necessary for classifications of the detected genetic variants (Tab. 1, Ref. 25).

Keywords: Azerbaijanian children, nephrotic syndrome, chronic glomerulonephritis, mutation, NPHS2
Published online: 17-Feb-2019
Year: 2019, Volume: 120, Issue: 2 Page From: 102, Page To: 105
doi:10.4149/BLL_2019_016


download file



© AEPress s.r.o
Copyright notice: For any permission to reproduce, archive or otherwise use the documents in the ELiS, please contact AEP.