Genetics in stone disease

The influence of various genes and their alteration in the formation of urinary stones has been highlighted since one 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 but also in other organs has been 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, importantly the understanding of monogenic disorders provided important insights into mechanisms that may contribute to the more common polygenic forms of Urolithiasis. The webinar focuses on the need, timing and way of diagnosing genetic forms of kidney stone disease while highlighting on the pathogenesis, pathophysiology, diagnosis and treatment of monogenic or oligogenic disorders associated with urinary stone formation namely Primary Oxaluria and Cystinuria.

Publication date: February 2021
Available languages: English
Topic: Genetics in stone disease
CME: 1 European CME credit (ECMEC)
Duration: 60-90 minutes