Living with Familial hypokalemia-hypomagnesemia
A kidney condition (Gitelman syndrome) that upsets the body's potassium, magnesium and calcium balance, with muscle cramps and weakness.
Understanding Familial hypokalemia-hypomagnesemia
Symptoms usually start in late childhood or the teen years. They vary widely, even within one family. Most people have fairly mild symptoms, though some have severe cramping, paralysis, or slow growth. Studies suggest it may also raise the risk of an abnormal heart rhythm (ventricular arrhythmia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Painful muscle spasms (tetany) and cramps
- Muscle weakness
- Dizziness and salt craving
- Tingling in the skin (paresthesias)
- Abdominal pain
- Low-to-normal blood pressure
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC12A3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC12A3 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: gitelman syndrome; gitelman's syndrome; gtlmns; hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; potassium and magnesium depletion; primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial hypokalemia-hypomagnesemia.
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