Genetics in Nephrourology
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 impossible. Enormous efforts have been spent to disclose the underlying basic defects. 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 this similarly applies to many others. 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 (Reeders et al. 1985) and identified in 1994 (The European Polycystic Kidney Disease Consortium 1994). Including the knowledge of other cystic diseases, experimental in vitro research, and data of numerous animal models, a common pathogenetic theory of cystogenesis allowed the first causal therapeutic trials in the last years; huge research progress can be expected within the next years.
- Current citations are available in Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/omim/
For background information, see textbooks of human genetics e.g.:
- Read A, Donnai D (2015) New clinical genetics 3. Scion, Banbury. ISBN 9781907904677Google Scholar
- Tobias ES, Connor M, Ferguson-Smith M (eds) (2011) Essential medical genetics, 6th edn. Wiley-Blackwell, Chichester/Hoboken. ISBN 9781405169745Google Scholar
- Tumpenny PD (2012) Emery’s elements of medical genetics, 14th edn. Elsevier/Churchill Livingstone, Philadelphia. ISBN 9780702040436Google Scholar