INFORMATION FOR HEALTH PROFESSIONALS

Cystinuria is a rare autosomal recessive condition which results in stones made of the amino acid cystine being formed in the kidneys and bladder.

Link to Gene Reviews or Guidelines

• Genetics Home Reference – Cystinuria
  • https://ghr.nlm.nih.gov/condition/cystinuria#

Further Information

• National Organisation for Rare Disorders – Cystinuria
  • https://rarediseases.org/rare-diseases/cystinuria/
• OMIM – Cystinuria
  • http://omim.org/entry/220100

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 Cystinuria, 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.