#1471 The role of genealogy in patients with CKD in primary health care

Abstract

Abstract Background and Aims Improving the risk prediction of adverse outcomes of chronic kidney disease at the level of primary care physicians, through early diagnosis of chronic kidney disease, can help reduce the progression of the disease, improve the clinical condition of patients and the prognosis of the disease, reduce the number of patients with terminal stage, reduce disability rates and reduce lethality. The aim of our study is to explore the role of genealogical analysis in patients with CKD at the primary care level. Method In primary healthcare settings, 217 patients with CKD were under observation, with an average age of 46.17±0.63 years, predominantly of Uzbek nationality. A control group of 20 healthy people of Uzbek nationality of the same age without signs of CKD. After compiling the legend of 217 families, a pedigree was compiled and a genealogical analysis was carried out. In order to identify the severity of CKD, the data obtained were compared with the results of an analysis of pedigrees of individuals (n=20) in a healthy population. Using the genealogical method, 893 first-degree relatives (parents, siblings) of patients with CKD were examined for the presence of renal pathology. A detailed pedigree was compiled, which included information about diseases in 2-3 generations of the family. Genetic material was collected from both parental lines by cross-questioning both parents, and sometimes grandparents. A total of 1761 people were analyzed in the model population. Results The data obtained were compared with the generalized family response of 20 practically healthy people, in the model population of which 172 people were analyzed, of which the incidence of renal pathology was 2.13%. A comparative analysis of a generalized family portrait of patients with CKD with a generalized family portrait of a population of practically healthy people revealed a more frequent incidence of renal pathology in relatives with CKD (11.07%%). In families of probands, renal pathology in generations in relation to the total number of patients of each concentration is III - 7.49%; II - 11.06%; I- 17.43%. The burden in the population of practically healthy people was observed significantly less: III - 0%; II- 0.15%; I- 0%. It turned out that renal pathology more often affects first-degree relatives (130 (14.56%), which in relation to the total number of patients in this concentration is 7.38%. Hereditary burden of renal pathology was observed more often on the father's side in 46 (10.60±0.34%) than on the mother's side in 19 (4.38±0.34%). Conclusion The results of our study indicate a significant prevalence of CKD in families of probands, but with a predominance of first-degree relatives being affected. Pedigree analysis confirms the absence of a monogenically inherited disease, such as simple recessive or dominant inheritance. Along with this, the widespread prevalence of renal pathology in the population suggests that only a predisposition to the development of CKD is inherited. Thus, according to our data, it is necessary to recommend the study of genealogical analysis of patients at the level of primary healthcare. Moreover, this is more accessible in primary health care with family doctors.