Geneticky podmíněné nefropatie a uropatie
| Title in English | Genetically conditioned nephropathies and uropathies |
|---|---|
| Authors | |
| Year of publication | 2015 |
| Type | Chapter of a book |
| MU Faculty or unit | |
| Citation | |
| Description | Advances in renal physiology have been paralleled by a revolution in human genetics, highlighted by the sequencing of the human genome. This has not only provided many of the tools for the development of renal physiology but has facilitated the identification of gene mutations that underlie genetic diseases in human subjects. This interaction between physiology and genetics has greatly enhanced the understanding of normal kidney function as well as the molecular pathogenesis of renal genetic diseases. The purpose of the present text is to identify and analyze genetic abnormalities causing renal diseases in children. The authors describe primary genetic diseases of the proximal and distal renal tubules, primary genetic diseases of the thick ascending limb of Henle and distal convoluted tubule, and genetic abnormalities of renal development and morphogenesis. |