Genetic Renal Abnormalities

Abstract

<h2>Abstract</h2> Identification of disease-causing genes can yield fundamental new insights into basic cellular mechanisms and a clearer understanding of how disease can arise in healthy organs. Ultimately, this knowledge could be used to develop effective therapies. In the last decade, there has been particular emphasis on the identification of disease genes in 'single-gene' disorders. This contribution summarizes current knowledge regarding single-gene disorders affecting kidney structure and function, and shows how identification of disease genes has improved understanding of the molecular basis of autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. Historically, most kidney diseases have been defined by their clinical, biochemical, histological or radiological appearances. Identification of specific disease genes has enabled more precise molecular definition of diseases with often complex and variable phenotypes. Figures 1, 2 and 3 summarize three major categories of renal diseases caused by mutations in a single gene in which the precise defective gene has been identified (adult and childhood cystic diseases, inherited glomerular diseases and tubular disorders).