The patient journey in Alport Syndrome is diverse, reflecting its genetic variations. X-linked Alport Syndrome manifests differently in males and females, with males experiencing more severe symptoms. Autosomal recessive Alport Syndrome involves both parents passing on the affected gene, leading to variable symptoms.

Autosomal dominant Alport Syndrome may present milder symptoms, emerging later in life. De Novo mutations add complexity, as they arise spontaneously. Understanding genetic variants, like deletions and missense variations, is vital for tailoring treatments. As research advances, uncovering these variations promises more personalized approaches to the diverse patient journeys in Alport Syndrome.

Please find here the Alport Syndrome Journey which was developed by patient representatives. However, our ERKNet patient representatives are currently developing sub forms   - X linked Male, X linked female, Autosomal recessive. Autosomal Dominant, De Novo.