An estimated 25% of pediatric-onset and 15% of adult-onset chronic renal failure can be explained by a monogenic cause. Many kidney disorders can lead to end-stage renal disease – permanent failure of the kidneys requiring kidney transplant. Identifying, or confirming, a genetic diagnosis can help guide medical management, improve patient outcomes and enable the identification of at-risk family members who may benefit from surveillance. During this webinar, Dr Friedhelm Hildebrandt will review the most recent advances in genetic testing and diagnosing inherited kidney disease.
- Review common genetic causes for kidney disease
- Provide clinical insight for when to order genetic testing
- Describe the latest research surrounding inherited kidney disease
Friedhelm Hildebrandt, MD, is an alumnus of the Howard Hughes Medical Institute and the William E. Harmon professor of pediatrics at Harvard Medical School. He is the chief of nephrology at Boston Children’s Hospital. Dr Hildebrandt’s work is concerned with the identification and functional characterization of full-penetrance single-gene causes of kidney disease in children.
His group has discovered and functionally characterized 80 novel monogenic causes of chronic kidney disease. The 3 major fields of study include congenital anomalies of the kidney and urinary tract (CAKUT), nephrotic syndrome, and retinal-renal ciliopathies.