Genetics and genetic testing in kidney disease: introduction.

摘要

Our understanding of the genetic contribution to human disease continues to increase at a phenomenal pace. The contribution of genetic research to understanding kidney disease and kidney biology is part of this explosion. Rare, highly penetrant mutations cause a wide range of renal phenotypes, from disease of renal growth (such as polycys-tic kidney disease), diseases of abnormal glo-merular function (eg, congenital nephrotic syndrome), and abnormalities of blood pressure and electrolyte homeostasis (eg, Bartter syndrome). The number of such mutations, genes, and phenotypes identified is large and continues to grow. In recent years, large-scale studies have started to define the spectrum of human genetic variation contributing to common disease, including a number of renal phenotypes, including chronic kidney disease and blood pressure variation. At the same time, technology is advancing rapidly so that genetic information will be more readily accessible.