TRIM8 | Genetics in Pediatric Kidney Disease: Part 5 | Case Study | Patricia Weng

What syndromes would dictate having a genetic test for renal disease? Dr. Weng, MD is an Associate Professor of Pediatrics and the Interim Director of Pediatric Kidney Transplantation at UCLA discusses a number of cases and the current understanding of use of genetic testing in the pediatric space in this series.
In this video, Dr. Weng describes the case of a 4 year-old male with developmental delay and seizures. The patient developed generalized edema with abnormal labs, and a family history of epilepsy. After utilizing steroids for 2 months, a renal piopsy indicated extensive foot process effacement and sclerotic glomeruli, as well as adhesions. The patient was found to have a mutation in TRIM8, which is known to cause seizures, developmental delay, and nephrotic syndrome. A genetic mutation has additionally allowed for alteration of treatment management.
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