Abstract
Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs: the risk of CKD in individuals with an affected first degree relative has been found to be three times higher than in the general population. Genetic factors are known to be involved in CKD pathogenesis, both due to the possible presence of monogenic pathologies as causes of CKD, and to the role of numerous gene variants in determining susceptibility to the development of CKD. The genetic study of CKD patients can represent a useful tool in the hands of the clinician; not only in the diagnostic and prognostic field, but potentially also in guiding therapeutic choices and in designing clinical trials. In this review we discuss the various aspects of the role of genetic analysis on clinical management of patients with CKD with a focus on clinical applications. Several topics are discussed in an effort to provide useful information for daily clinical practice: definition of susceptibility to the development of CKD, identification of unrecognized monogenic diseases, reclassification of the etiological diagnosis, role of pharmacogenetics.
Highlights
Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs [1]
Heritability estimates, linkage, and familial aggregation studies corroborate the contribution of genetics to both renal function in the healthy range and to kidney diseases [2,3]
The risk of CKD in individuals with an affected first degree relative was three times higher than in the general population, and their mean estimated glomerular filtration rate was lower compared to people of the same age [6]
Summary
Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs [1]. CKD is the definition of a complex phenotype, and encompasses a wide range of heterogeneous diseases. It may share some phenotypic traits with natural aging. Heritability estimates, linkage, and familial aggregation studies corroborate the contribution of genetics to both renal function in the healthy range and to kidney diseases [2,3]. A recent study conducted in the Netherlands estimated the heritability of renal function and other kidney traits in a 3-generation population of almost 156,000 individuals of European ancestry. The risk of CKD in individuals with an affected first degree relative was three times higher than in the general population, and their mean estimated glomerular filtration rate (eGFR) was lower compared to people of the same age [6]
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