# Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man

## TL;DR

An elderly man was diagnosed with a rare kidney disease called autosomal dominant Alport syndrome, highlighting the importance of genetic testing for accurate diagnosis.

## Contribution

The paper presents a case of late-diagnosed autosomal dominant Alport syndrome and discusses terminology challenges in the condition.

## Key findings

- ADAS was diagnosed in a 78-year-old man with chronic kidney disease.
- The case highlights the variability and mild nature of ADAS compared to other Alport syndrome types.
- The paper emphasizes the need for genetic testing to confirm ADAS.

## Abstract

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.