The National Gitelman Association is dedicated to improving the lives of everyone affected by Gitelman syndrome — a rare inherited kidney condition that goes undiagnosed for years in most patients.
Resources for patients, caregivers, and clinicians — all in one place.
Understand the signs, lab findings, and the diagnostic process for Gitelman syndrome.
Learn more →Pattern recognition, differential diagnosis, referral letter template, and ER protocol.
Early detection guide →Generate a personalized printable card for emergencies — free, takes 2 minutes.
Create your card →Comprehensive guide for pregnant people with Gitelman and their care teams.
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Sign up →Gitelman syndrome is a rare autosomal recessive kidney disorder caused by loss-of-function mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule. This results in chronic urinary wasting of potassium and magnesium.
It is estimated to affect approximately 1 in 40,000 people worldwide, though many remain undiagnosed for years. Most patients are diagnosed in adolescence or adulthood, often after years of unexplained symptoms.
Blanchard A, et al. Gitelman syndrome: consensus and guidance from a KDIGO Controversies Conference. Kidney Int. 2017;91(1):24–33. PMID: 28003083. View on PubMed
Knoers NV & Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. PMID: 18667063. View on PubMed
Gitelman syndrome presents with a characteristic combination of physical symptoms and laboratory findings. Presentation is variable — some patients are nearly asymptomatic while others experience significant disability.
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Most Gitelman patients see multiple physicians over many years before receiving a correct diagnosis. The lab pattern is recognizable — if you know what to look for. Here's the key:
There are many ways to contribute to the Gitelman community — whether you are a patient, caregiver, clinician, or researcher.
Your experience with Gitelman syndrome — diagnosis, daily life, what helped — can guide and comfort others who are newly diagnosed.
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