Understanding the role of genetic polymorphisms in chronic kidney disease

Abstract

Although no valid studies clearly indicate increasing or decreasing numbers of incident paediatric patients, the prevalence of chronic kidney disease (CKD) and end-stage renal disease (ESRD) is growing worldwide. This is mainly due to improved access to renal replacement therapy (RRT), increased survival after dialysis and kidney transplantation and an increase in diagnosis and referral of these patients. Although the increase in CKD prevalence is mainly caused by environmental factors, genetic factors may also influence the incidence and/or the progression of CKD and its complications. As CKD patients might be more sensitive to genetic effects due to the exposure to a uraemic milieu, this makes studies of genetic factors especially interesting in this population. The goal of identifying genetic factors that contribute to the outcome of CKD is to gain further understanding of the disease pathogenesis and underlying causes and, possibly, to use this knowledge to predict disease or its complications and to identify a risk population. Therefore, genetic screening of paediatric CKD patients may enhance the impact of preventive measures that could have a positive effect on outcome. Furthermore, by identifying patients' genetic backgrounds, it is possible that a more individualised therapy could be designed.