Genetics in Nephrourology

Abstract

Due to the great number of disorders of the urinary tract and the increasing knowledge about the genetics during the last decades, a comprehensive and complete review on hereditary diseases in nephrology and urology is not possible. Enormous efforts have been spent to disclose the underlying basic defects. Very many nephropathies are hereditary and are subject of comprehensive research worldwide. An example for the progress in research is autosomal dominant polycystic kidney disease (ADPKD) but in many other diseases the history can be written in a similar way. With an incidence of about 1:1,000 ADPKD is one of the most common hereditary disorders at all. The first gene was mapped on chromosome 16 in 1985 and identified in 1994. Including the knowledge of other cystic diseases, experimental in vitro research as well and data of numerous animal models, a common pathogenetic theory of cystogenesis allowed the first causal therapeutic trials within the last years.