INFORMATION FOR HEALTH PROFESSIONALS

Alport Syndrome is an inherited condition caused by mutations in type IV collagen genes, resulting in abnormal kidney function, hearing loss and eye abnormalities.

Link to Gene Reviews or Guidelines

• Gene Review – Alport Syndrome and Thin Basement Membrane Nephropathy
  • https://www.ncbi.nlm.nih.gov/books/NBK1207/?report=reader

• KHA Fact Sheet – Alport Syndrome
  • http://kidney.org.au/cms_uploads/docs/kidney-health-australia–alport-syndrome-fact-sheet.pdf

Further Information

• Alport Foundation of Australia
  • http://www.alport.org.au/HOME.html
• National Organisation of Rare Disorders (NORD) Alport Syndrome
  • https://rarediseases.org/rare-diseases/alport-syndrome/

More detailed Information for Health Professionals will be available on the ARRK website in the near future.

If you would like to form or be part of a Disease Specific Research Group (DSRG) for Alport Syndrome, please contact the ARRK registry (arrkregistry1@gmail.com) or Dr Hugh McCarthy (hugh.mccarthy@health.nsw.gov.au).

The resources on this page provide information for healthcare professionals. If you have questions about a medical condition or health related issue, please consult your medical doctor or a healthcare professional.

This page was last updated on 24th Oct, 2018.