REGISTRATION
Grand Rounds in Pediatric Nephrology — an ISN-IPNA Sister Centers initiative: The Spectrum of Alport Syndrome: Who and how to investigate?
Early diagnosis and pharmacologic intervention can delay progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrome. We aim to highlight the phenotypic spectrum of this condition through a series of cases. We will cover key updates in diagnostics with a focus on genomics, as well as longer term surveillance and management of patients with Alport syndrome.
Learning Objectives:
- Understand when to initiate genetic/genomic testing for Alport syndrome
- Understand the factors that play a role in the diagnostic yield of a genomic test and basic terminology used in genomic reports
- Appreciate the utility of genomic test results as well as when to undertake renal biopsy
Further Reading:
- Savige J et al. Guidelines for genetic testing and management of Alport Syndrome. Clinical journal of the American Society of Nephrology. 2022 Jan 1;17(1):143-54.
- Savige J et al. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. 2021 Aug;29(8):1186-1197.
