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
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