Alport Syndrome Flashcards
1
Q
What causes Alport syndrome?
A
A defect in the gene which codes of Type IV collagen resulting in abnormal GBM
2
Q
How does Alport syndrome present?
A
- Microscopic haematuria
- Progressive renal failure
- Bilateral sensorineural deafness
- Retinitis pigmentosa
3
Q
How is Alport syndrome diagnosed?
A
- Molecular genetic testing
- Renal biopsy which shows longitudinal splitting of the lamina densa of the GMC resulting in ‘basket weave’ appearance
