Keyword: Diabetic Nephropathy

ABSTRACT: A 46-year old male was admitted to the University Medical Center (UMC) hospital with the following symptoms of anuria, abdominal fullness, hypotension, exertional dyspnea, and peripheral edema. The purpose of his visit was the insertion of a peritoneal dialysis catheter. He had chronic kidney disease stage 5 as a consequence of diabetic nephropathy, liver cirrhosis due to hepatitis C infection, and HIV. His disease course was further complicated by the presence of a urinary tract infection. As a result of his multiple comorbidities, he underwent a complex treatment regimen which included renal replacement therapy with ultrafiltration, blood transfusions for his anemia, platelet transfusions for his thrombocytopenia, albumin infusion for his hypoalbuminemia, and antibiotic treatment for his concurrent infection. Additionally, he received diuretic treatment for his hypervolemia and anti-hypertensives to control his blood pressure. After peritoneal dialysis (PD) insertion, the patient successfully underwent PD and was discharged home.

ABSTRACT: Diabetic kidney disease (DKD) is a major complication of diabetes mellitus and the leading cause of end-stage renal disease (ESRD) worldwide. Despite considerable research efforts, the pathogenesis of DKD remains incompletely understood, largely due to its multifactorial etiology and pronounced phenotypic heterogeneity. Genome-wide association studies (GWAS) have identified over 40 loci associated with DKD; however, these common variants collectively explain only a small fraction of the disease’s heritability. Rare and low-frequency variants, often undetected by GWAS, are increasingly recognized as important contributors, and next-generation sequencing (NGS) technologies offer valuable tools for their identification. Kazakhstan, characterized by a unique genetic landscape and substantial ethnic admixture, remains underrepresented in DKD genomics research. Expanding integrative, high-resolution genomic studies in such settings is essential for identifying population-specific risk variants, improving diagnostic accuracy, and advancing precision medicine approaches to DKD prevention and management.