GENETICS IN CLINICAL NEPHROLOGY 2023
26 MP4 Files
- This early program provides expertise in outpatient management of patients with Mendelian kidney disorders. This program reviews the historical development of genetic
- testing for patients with Mendelian kidney disorders, principles for genetic testing in individuals suspected of having a hereditary kidney disorder, and considerations of
- specific clinical settings, including early-onset disease for typical adult-onset disorders, late-onset disease for typical childhood-onset disorders, and genetic testing in the
- transplant clinic setting. Experts cover several important topics in the field, such as the value of genetic testing in individuals with CKD of unknown etiology, cystic kidney
- diseases, glomerulopathies, tubular transport, and nephrolithiasis disorders.
- Given the complexity of genetic test result reporting, a detailed review of the interpretation of test results is discussed, including the interpretation of variants of unknown
- significance (VUS). The role of genetic testing in the nephrology transplant clinic for both donors and recipients, the importance of pre- and post-testing genetic
- counseling, and appropriate test result sharing with patients and their families are discussed. This program also includes interactive clinical cases, debates, and panel
- discussions.