Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man

Autosomal dominant Alport syndrome (ADAS) is an uncommon diagnosis and is often missed in patients with chronic kidney disease of unknown origin unless specific genetic testing is performed. It results from heterozygous mutations in the COL4A3 and COL4A4 genes. The clinical presentation is variable but generally milder than that of X-linked or autosomal recessive Alport syndrome. In this article, we present the case of a 78-year-old man who was diagnosed with ADAS during evaluation in a nephrology clinic. We also discuss the condition and the challenges related to the terminology surrounding Alport syndrome.