Сhronic kidney disease in children: principles of ambulatory management

Introduction. The term «chronic kidney disease» (CKD) is used to define the outcomes of various forms of chronic progressive kidney disease, characterized by kidney damage, or a decrease in their function for three months or more, regardless of the nosological diagnosis. The aim of the work was to determine the frequency, structure, and clinical and paraclinical features of CKD in children to substantiate the principles of its management in primary health care. Results. In CKD patients, tubulointerstitial renal lesions were established to prevail (80%). Associated with congenital malformations of the urinary system, reflux uropathy, and urolithiasis in 98% of cases tubulointerstitial renal lesions are complicated by renal infection. In 8.9% of children, CKD was formed as an outcome of glomerulopathies; in 6.7% of children - with congenital and hereditary nephropathies; in 4.4% of children an outcome of a hemolytic uremic syndrome. The observed children dominated by I-II (74.3%), less often III and IV (25.7%) stages of CKD. The revealed clinical and paraclinical features of CKD in children are presented. The modern principles of early diagnosis of CKD in children and the identification of risk factors for the progression of nephropathy have been substantiated. For the diagnosis of CKD in childhood there has been created a. n algorithm, including at the outpatient stage. Authors suggested a set of measures for the prevention of nephropathy. Conclusion. For early diagnosis of CKD in childhood there was developed an algorithm based on the analysis of a complex of clinical and paraclinical, structural and functional parameters of the kidneys in combination with the parameters of endothelial function and cytokine status.

P0054ACQUIRED DIFFERENTIAL EXPRESSION IN ACUTE KIDNEY INJURY OF GENES RESPONSIBLE FOR HEREDITARY NEPHROPATHIES

Background and Aims Gene sequencing is becoming an important diagnostic tool in a great number of medical specialties. Despite its interpretation is still a challenge, allows the identification of genes related to hereditary diseases and bild a base for the study of acquired nephropathies. We hypothesize that those genes responsible for hereditary nehpropathies could contribute to the pathogenesis of acquired nephropathies. Method In a murine model of acute kidney disease induced by folic acid, we analyzed the kidney transcriptomic after 24 hours of damage. In this database we evaluated if 625 genes described as responsible for hereditary nephropathies were expressed significantly. Later, we evaluated the correlation between diferentially expressed genes and glomerular filtration, using transcriptomic databases of human nephropathies (Nephroseq), so that, we could identify those relevant in acquired human nephropathies and in experimental settings. A functional enrichment analysis was done using the software Gorilla, and some of the genes were validated in our laboratory using RT-PCR. Results In acute kidney disease, the renal expression of 3906/25051 (15.59%) genes increased and the expression of 3537 (14.11%) decreased significantly (p<0.05). The percentage of genes expressed diferentially was higher when analysing the 625 genes responsible of familiar nephropathies. We identified 615 of those in the murine model and 105/615 (17.07%) increased it expression, and 155 (25.20%), decreased it (p<0.05 when compared with the database with 25051 genes). 241 of those 260 diferentially expressed genes (92.69%) where associated significantly with glomerular filtration rate in human nephropathies. The most enriched GO process were “complement activation", "protein activation cascade", "activation of immune response" and "RNA processing”. We have validated the expression of 7 of the genes in acute kidney injury (SLC34A1, SLC34A3, Klotho, MAGED2, NLRP3, FN1, COL4A1), which supports the relevance of the transcriptomic results. Conclusion Genes involved in familiar nephropathies are overexpressed between genes diferentially expressed in acquired nephropathies, suggesting that they could play a role in the pathogenesis of the last, throught the regulation of the RNA processing, protein activation or immune response and complement regulation. The analysis of the functioning of genes responsible for familiar nephropathies in acquired nephropaties could identify new therapeutic targets in kidney damage.

Molecular background of hereditary nephropathies in spaniel dogs

The molecular background of hereditary nephropathies in English Cocker Spaniels and Springer Spaniels remained unclear until the beginning of the 21st century. It was only the discovery of an association between these diseases and Alport syndrome in humans that made it possible to identify the genes potentially responsible for nephropathies in dogs. Eventually, two mutations were identified in the COL4A4 gene coding for the alpha chains of collagen IV, the main component of the glomerular basement membrane (GBM). This review presents the molecular mechanism resulting from the aforementioned mutations, the signs of disease, functions of the GBM, and breeding aspects.

Clinical characteristic and genetic polymorphism of hereditary kidney disease. Communication 1

Clinical manifestations of the most prevalent hereditary nephropathies with determinations of the inheritance type are presented.