Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine concentration in polymorphonuclear blood leukocytes, Sanger sequencing for the entire coding sequence and flanking intron regions of the CTNS gene, multiplex PCR to detect a common mutation-a 57 kb deletion, and multiplex ligation-dependent probe amplification to analyze the number of exon copies in the CTNS gene. Haplotype analysis of chromosomes with major mutations was carried out using microsatellite markers D17S831, D17S1798, D17S829, D17S1828, and D17S1876. In this study, we provide clinical, biochemical, and molecular genetic characteristics of 40 Russian patients with mutations in the CTNS gene, among whom 30 patients were selected from a high-risk group of 85 people as a result of selective screening, which was carried out through cystine concentration measurement in polymorphonuclear blood leukocytes. The most common pathogenic variant, as in most described studies to date, was the 57 kb deletion, which represented 25% of all affected alleles. Previously non-described variants represented 22.5% of alleles. The founder effect in the Karachay and Chechen ethnic groups was shown for the following major variants: c.1015G > A and c.518A > G.

[Nutritional management of kidney diseases in children].

The prevalence of various kidney diseases in children remains high in recent decades. Adequate nutrition management can enhance the effectiveness of drug treatment, slow the frequency of relapses andprevent the progression of the disease. The article is devoted to modern approaches to diet therapy in various kidney diseases in children with the defeat of tubular and glomerular appa ratus. For the first time the therapeutic diets for children with various kidney diseases are presented. Particular attention is paid to diet therapy in nephrotic syndrome (steroid-responsive and steroid-refractory). Dietary approaches with modern formulas for enteral nutrition in cases of steroid therapy complications in children with renal insufficiency (in predialysis stage and on dialysis) are described. Differentiated nutritional approaches for patients with different types of crystalluria are separately presented.

[Endothelial dysfunction in children's chronic glomerulonephritis].

Production of NO, sVCAM-1, Et-1, FV, PAI- 1 was measured in blood sera of children with different forms of chronic glomerulonephritis. Endothelial dysfunction (ED) occurred in the active phase of the disease and persisted during remission regardless of the clinical form of glomerulonephritis. Severity of ED and involvement of its markers depended on morphological type of the disease. Production of endothelin-1 was highest in patients with sclerotic glomerulonephritis and accompanying arterial hypertension. ED caused activation of hemostasis with the prevalence of prothrombotic condition. ED contributed to the progress of glomerulonephritis acting via sclerotization and cell proliferation. Selected markers ED are shown to be of prognostic value in children with chronic glomerulonephritis.

Modulatory effects of autologous plasma on functional activity of human immunocompetent cells.

Blast transformation of peripheral blood lymphocytes stimulated with phytohemagglutinin and concanavalin A was studied in children with pyelonephritis and glomerulonephritis. Activity of natural killer cells from children with pyelonephritis was estimated before and after treatment with 50% autologous plasma. The autologous plasma modulated blast transformation of lymphocytes and activity of natural killer cells, which depended on the stage of diseases.

[Platelet aggregation and the fibronectin level of the blood in children with chronic glomerulonephritis]. / Agregatsiia trombotsitov i uroven' fibronektina v krovi u detei s khronicheskim glomerulonefritom.

We compared platelet aggregation with changes in fibronectin (FN) plasma levels in children with various forms of primary CGN. We found that a rise in platelet aggregation and plasma FN level depends on CGN clinical form, extent of inflammation and sclerotic changes in nephric tissue. The greatest changes occurred in patients with nephrotic CGN and with segmentary glomerulosclerosis.

[Endogenous vasoactive factors in children with nephrotic syndrome]. / Endogennye vazoaktivnye faktory pri nefroticheskom sindrome u detei.

In accordance with the results of examining 40 children with nephrotic and mixed glomerulonephritis, it has been established that in the pathogenesis of the nephrotic syndrome of paramount importance is imbalance of the output of renal prostanoids, manifesting in the predominance of the vasopressor and proaggregate fraction--thromboxane A2 and in the deficiency of its antagonist prostacyclin that exerts a protective action on glomerular filtration. Sodium and water retention in patients with the nephrotic syndrome favours an increase of the content of antidiuretic hormone and plasma renin activity.

[Renal prostaglandins in glomerulonephritis in children]. / Pochechnye prostaglandiny pri glomerulonefrite u detei.

Prostanoid excretion with urine in children suffering from glomerulonephritis indicates that in the kidneys the output of prostacycline decreases and that of thromboxan rises. In glomerulonephritis children prostacycline and prostaglandin E promote the maintenance of glomerular filtration, which is evidenced by the reduction of their output in the stage of chronic renal failure. The growth of renin and antidiuretic hormone synthesis in children suffering from nephrotic glomerulonephritis is not accompanied by the increase of the output of prostaglandin E, their renal antagonist, and may be one of the reasons of the development of the edematous syndrome.