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Introduction. Nephrotic syndrome (NS) with an onset in the first year of life is one of the actual problems in pediatric nephrology due to the limited therapeutic options, the ineffectiveness of immunosuppressive therapy, and inevitable progression to chronic kidney disease (CKD). The basis of congenital NS (CNS) and infantile NS (INS) is a genetically determined pathology of podocytes. The timely verification of such pathology allows avoiding ineffective therapy and helps to predict outcomes. Aim. To determine CNS and INS’s clinical and molecular genetic characteristics in Russian children. Materials and methods. This study performed molecular genetic testing of 99 children with an early onset of NS. Results. In children with CNS and INS, the genetic cause of the disease was verified in 85%. Causative nucleotide variants prevailed in the NPHS1, NPHS2, WT1 genes. It became possible to identify the significant nucleotide variants for the Russian group of children. Children with NS at an early age turned out to be resistant to therapy with calcineurin inhibitors, which should be considered when choosing therapy tactics. Conclusion. We detected the genetic structure of congenital and infantile NS in the Russian Federation during the study. We analyzed the effectiveness of therapy with calcineurin inhibitors and the rate of CKD progression in this group.

The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article. Gitelman syndrome is a dysfunction of distal renal tubules with further development of hypomagnesemia, hypocalciuria and secondary aldosteronism which determine hypokalemia and metabolic alkalosis. Features of epidemiology, etiology and pathogenesis, disease progression, differential diagnostics and evidence-based treatment are presented.

Background: Hypophosphatemic rickets is a rare disease, related to renal phosphate waste, which cause bone deformities, and lead to walking abnormalities and to the reduction in the quality of life. Clinical recommendations in different countries vary in medications, recommended doses and surgery approach. The main aim was to analyze phosphate metabolism in children with hypophosphatemic rickets and to evaluate results of conservative and surgical therapy. Methods: We analyzed medical histories of 15 children with hypophosphatemic rickets and investigated phosphate metabolism, including the measurement of serum intact fibroblast growth factor 23 and X-ray bone densitometry. Routine biochemical tests were assessed with our laboratory reference data, the level of iFGF-23 in hypophosphatemic children was compared with the same values in 18 healthy children. Results: We investigated 15 girls with hypophosphatemic rickets, aged of from 3 years 9 months to 18 years 7 months. All children were treated with alphacalcidol and inorganic phosphate (in dose from 16.21 to 103.3 mg/kg, during from 1 to 114 months). Eleven (73%) children had surgical correction of bone deformations, starting at the age of from 3 to 12 years. Ten (91%) of them had the relapse of bone deformations. Two of four children undergone to the correction of bone abnormalities on alphacalcidol and phosphate therapy without surgery. The level of iFGF-23 in children with hypophosphatemic rickets was 73.11 pg/ml, and exceed iFGF-23 in control group (22.92 pg/ml), p =0,009. Conclusion: Early surgical treatment of bone deformations is not indicated in hypophosphatemic rickets because of risk of recurrence, observed in 91% of our patients. There could be spontaneous correction of bone deformation during conservative therapy, when it is started early.

The clinical recommendations on management of children with Liddle syndrome which is characterized by severe hypertension along with low activity levels of renin and aldosterone in blood plasma, hypokalemia and metabolic alkalosis, were developed by the experts of the Union of pediatricians of Russia. Aspects of epidemiology, etiology and pathogenesis, disease progression, differential diagnostics and evidence-based treatment are presented.