Gitelman Syndrome


Gitelman Syndrome is a rare autosomal recessive kidney disorder caused by mutations that affect the kidney’s ability to reabsorb salt.


Link to Gene Reviews or Guidelines

Further Information

  • National Organisation for Rare Disorders (NORD) – Gitelman Syndrome
  • Blanchard, A. et al. (2017). Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International 91 (1), 24-33.


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 Gitelman Syndrome, please contact the ARRK registry ( or Dr Hugh McCarthy (


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.