Evaluation of Genetic Renal Diseases in Potential Living Kidney Donors

Abstract

Better outcomes for living donor transplantation, together with the shortened waiting time and the increasing gap between supply and demand for kidneys for transplantation, has led to greater pressure on transplant candidates and transplant centers alike to encourage and advocate for living kidney donation as the more timely form of renal replacement therapy. Recent studies report that living kidney donors biologically related to their transplant candidate may be at increased risk of end-stage renal disease (ESRD) and this may reflect the shared inheritance of a disease or risk allele. The possibility of carrying a genetic predisposition or the renal disease itself should be entertained in every kidney donor with a positive family history of kidney disease. Screening laboratory, imaging, and genetic tests have been established to assess early disease or future disease in individuals at risk for some genetic diseases. Ascertaining the cause of kidney disease in patients referred for a kidney transplant greatly facilitates appropriate screening for their genetically related potential living donor. However, there are a large number of monogenic renal diseases, from the common and easily diagnosed autosomal dominant polycystic kidney disease (ADPKD) to the rare and more difficult to recognize diseases that nevertheless pose a serious risk. In this review, we discuss approaches to screen for and exclude a few common renal genetic diseases including ADPKD, autosomal dominant interstitial kidney disease, some of the inherited podocytopathies, APOL1-related renal disease, atypical hemolytic uremic syndrome, Alport syndrome, and Fabry disease.