Living with Renal hypomagnesemia 2
A mild inherited condition in which the kidneys lose too much magnesium, causing weakness and seizures.
Understanding Renal hypomagnesemia 2
It is marked by extreme weakness, muscle spasms (tetany), and seizures. Calcium loss in the urine is also affected. It can occur at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these, though it doesn't say how common they are:
- Extreme weakness
- Muscle spasms (tetany)
- Seizures
- Muscle weakness throughout the body
- Calcium deposits in joints
- Reduced kidney function
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 FXYD2 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
This condition is caused by changes in the FXYD2 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant primary hypomagnesemia with hypocalciuria; familial primary hypomagnesemia caused by mutation in fxyd2; fxyd2 familial primary hypomagnesemia; fxyd2 primary hypomagnesemia; homg2; homg2 - renal hypomagnesemia type 2
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 Renal hypomagnesemia 2.
Explore research for Renal hypomagnesemia 2
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- Eligibility is confirmed by the study team
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