Genetic testing in pediatric patients with CKD: Part 1 | Dr. Larry Greenbaum | Nephrology скачать в хорошем качестве

Genetic testing in pediatric patients with CKD: Part 1 | Dr. Larry Greenbaum | Nephrology

Dr. Greenbaum takes us through a summary of current literature on what the yield of utility of genetic testing, including a description of how studies on genetic testing can end up with a higher yield (based on selection) or a lower yield (as older studies have fewer genes on their panels overall. In Part 1 of this series, Dr Greenbaum describes a number of studies examining the yield in genetic testing of pediatric patients with nephrotic syndrome (28%), kidney stones (20%), CAKUT (6.3%), tubular disorders (64%). He then discusses the utility of genetic testing in each of these conditions. In Part 2 Dr. Greenbaum describes the overall approach to genetic testing in pediatric patients with nephrotic syndrome, stones (nephrocalcinosis), cystic disorders, CAKUT, CKD of unknown etiology, tubular disorders, and persistent microscopic hematuria without alternative etiology. In Part 3, Dr. Greenbaum discusses a number of case studies, outlining the experiences of 5 different patients who were diagnosed with diabetes insipidus, Dent disease, Gitelman Syndrome, renal glucosuria, and pseudohypoaldosteronism. Dr. Greenbaum finishes by describing how Physicians can work in tandem with their nurse in order to ensure that samples are obtained in the best way possible. Looking for Part 2?    • Genetic testing in pediatric patients with...   Looking for Part 3?    • Genetic testing in pediatric patients with...   00:00 Introductions to Dr. Greenbaum 03:13 Outline of presentation 04:27 Review of genetic testing in Nephrotic Syndrome 09:39 What does a positive genetic variant mean in Nephrotic Syndrome? 11:25 Review of genetic testing in Kidney Stones 12:54 Review of genetic testing in CAKUT 13:44 Review of genetic testing in Tubular Disorders 13:44 Review of genetic testing in Tubular Disorders Have any questions? You can reach us at renalgeneticseducation@natera.com Looking for a course to get CME credits? Check out Genetics in Nephrology: https://www.nephrology-genetics.com/ For more details, please visit our website 🌐 https://www.natera.com/organ-health/r...   / nateraneph     / natera     / nateragenetics