Understanding the role of genetic polymorphisms in chronic kidney disease
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REVIEW
Understanding the role of genetic polymorphisms in chronic kidney disease Karin Luttropp & Peter Stenvinkel & Juan Jesús Carrero & Roberto Pecoits-Filho & Bengt Lindholm & Louise Nordfors
Received: 4 October 2007 / Revised: 31 January 2008 / Accepted: 4 February 2008 / Published online: 27 March 2008 # IPNA 2008
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. K. Luttropp : L. Nordfors Department of Molecular Medicine and Surgery, Neurogenetics Unit, Karolinska Institutet, L8:00 CMM, 171 76 Stockholm, Sweden P. Stenvinkel (*) : J. J. Carrero : R. Pecoits-Filho : B. Lindholm Department of Renal Medicine (Baxter Novum), K56 Karolinska University Hospital Huddinge, Karolinska Institutet, 141 86 Stockholm, Sweden e-mail: [email protected]
Keywords Chronic kidney disease . Paediatrics . Cardiovascular disease . Inflammation . Single nucleotide polymorphisms
Introduction Chronic kidney disease (CKD) displays familial clustering, and individuals whose relatives have contracted advanced nephropathy are themselves at a higher risk of developing kidney disease, proteinuria and atherosclerotic cardiovascular complications [1]. Since a family history of CKD is more common in younger patients than in older patients, this indicates that genetic factors play an important role. Further supporting the involvement of genetic variants, genetic control of the many different biological pathways involved in CKD could govern disease initiation and/or progress. However, as the incidence of CKD is higher in groups of lower social status, environmental factors also contribute [1]. Thus, genetic and environmental factors are part of a complex interplay present in CKD, which ultimately affects clinical outcome (Fig. 1). The interest in single nucleotide polymorphisms (
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