Gitelman Syndrome
INFORMATION FOR HEALTH PROFESSIONALS

 

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 (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.

  • Alport Syndrome
  • Atypical Haemolytic Uraemic Syndrome (aHUS)
  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
  • Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Bartter Syndrome
  • Calciphylaxis
  • Cystinosis
  • Cystinuria
  • Dent Disease and Lowe Syndrome
  • Gitelman Syndrome
  • Haemolytic Uraemic Syndrome (Shiga Toxin Associated)
  • Hepatic Nuclear Factor 1B Mutations
  • Hyperoxaluria
  • Membranoproliferative Glomerulonephritis (MPGN), Dense Deposit Disease (DDD) and C3 Glomerulopathy
  • Membranous Nephropathy
  • Nephronophthisis
  • Nephrotic Syndrome
  • Pregnancy and Chronic Kidney Disease
  • Tuberous Sclerosis
  • Vasculitis