According to the Alport Syndrome Foundation, the diagnosis of Alport syndrome is performed using some or all of these methods:
• Medical history and physical examination (urinalysis, blood testing)
• Detailed family history and possibly urinalyses on first- and second-degree relatives
• Hearing and vision evaluation and testing
• Renal (kidney) ultrasound
• Kidney biopsy analysis
• Skin biopsy analysis
• Genetic testing
Early and accurate diagnosis is important for early intervention in Alport syndrome, regardless of gender.