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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 signifi cance (Pro20Ley, Leu169Pro, Val180Met, Arg229Gln, Val290Met) and benign (Gly34Gly, Ala318Ala) variants. No novel variants were detected. CONCLUSION: This is the fi rst study investigating the nephrotic syndrome related to NPHS2 gene in Azerbaijani population. The high prevalence of uncertain signifi cance variants emphasises the importance of population studies in this region as such data are necessary for classifi cations of the detected genetic variants (Tab. 1, Ref. 25). Text in PDF www.elis.sk.

Background Coronavirus disease-2019 (COVID-19) has been challenging for patients and medical staff. Radical changes have been needed to prevent disruptions in patient care and medical education. Methods A web-based survey was sent to European Society for Pediatric Nephrology (ESPN) members via the ESPN mailing list to evaluate the effects of the COVID-19 pandemic on delivery of pediatric nephrology (PN) care and educational activities. There were ten questions with subheadings. Results Seventy-six centers from 24 countries completed the survey. The time period was between the beginning of the pandemic and May 30, 2020. The number of patients admitted in PN wards and outpatient clinics were significantly decreased (2.2 and 4.5 times, respectively). Telemedicine tools, electronic prescriptions, online applications for off-label drugs, and remote access to laboratory/imaging results were used in almost half of the centers. Despite staff training and protective measures, 33% of centers reported COVID-19 infected staff, and 29% infected patients. Difficulties in receiving pharmaceuticals were reported in 25% of centers. Sixty percent of centers suspended living-related kidney transplantation, and one-third deceased-donor kidney transplantation. Hands-on education was suspended in 91% of medical schools, and faceto-face teaching was replaced by online systems in 85%. Multidisciplinary training in PN was affected in 54% of the centers. Conclusions This survey showed a sharp decline in patient admissions and a significant decrease in kidney transplantation. Telemedicine and online teaching became essential tools, requiring integration into the current system. The prolonged and fluctuating course of the pandemic may pose additional challenges necessitating urgent and rational solutions.

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Analyzed the current status of chronic glomerulonephritis (CGN) in children, listed the known aspects of pathogenesis and what remains to be studied. In particular, data on the burden of disease (incidence, prevalence, rate of progression) are missing or limited; available information on the relationship of known risk factors regarding morbidity, prevalence and progression are limited; insufficient data on the importance of maternal health factors and fetal risk factors. Genetic causes of CGN vary in different places and knowledge remains limited. CGN is characterized by genetically determined immuno-mediated inflammation of the renal glomeruli, accompanied by the integration of all the structures of the kidneys into the pathological process. The data on the association of NPHS1 and NPHS2 polymorphisms that play an important role in the molecular mechanisms of nephrotic syndrome in various populations are presented. It is noted that in the European population the most frequent polymorphism associated with steroid-resistant nephrotic syndrome (NS) is R138Q (rs74315342). NPHS1 and NPHS2 are common among Iranian children with steroid-resistant NS, and p.R229Q mutations are not registered. In contrast to Iranian adolescents, in the Russian population in children with this pathology, a frequent association of the polymorphic marker R229Q in the heterozygous state was revealed. A low mutation rate in NPHS1 and NPHS2 was found in Pakistani children with NS, whereas in children with NA, from the Iranian population, NPHS1 rs437168, but not NPHS2 rs61747728, was associated with NA. Several studies have shown that mutations in the NPHS2 gene occur in 20 % to 30 % of sporadic cases of steroid-resistant NS. Attention is drawn to the lack of knowledge of the polymorphism of these genes in Azerbaijani children with CGN.