Genetics in stone disease скачать в хорошем качестве

Genetics in stone disease

Presenters: Moochhala, London (GB) Skolarikos, Athens (GR) Save the date: Tuesday, 16 February 2021 Time: 18:30 to 19:30 (Central European Time) Highly-regarded experts of the EAU Section of Urolithiasis (EULIS) will share vital research and their valuable insights with you in detail. The influence of various genes and their alteration in the formation of urinary stones has been highlighted a century ago. As a consequence, the causal role of a variety of proteins encoded by these genes including enzymes, transporters, channel and receptor proteins in the kidney and also in other organs, has elucidated and enlightened the pathogenesis of urinary stone disease. Polygenic and monogenic alterations may be responsible for urinary stone formation. For the common polygenic form of urolithiasis, family linkage and candidate gene studies have highlighted aberrations of calcium metabolism. For the rare monogenic disorders, advances in molecular genetics and pharmacogenomics have revolutionized diagnosis and treatment of the relevant diseases. More significantly, the understanding of monogenic disorders provided important insights into mechanisms that may contribute to the more common polygenic forms of urolithiasis. This UROwebinar will focus on the need, timing, and way of diagnosing genetic forms of kidney stone disease. The UROwebinar will also highlight the pathogenesis, pathophysiology, diagnosis and treatment of monogenic or oligogenic disorders associated with urinary stone formation such as primary oxaluria and cystinuria.