Living with Primary hypomagnesemia
An inherited kidney condition in which the kidneys lose magnesium, leading to urinary infections, kidney stones and calcium deposits in the kidneys.
Understanding Primary hypomagnesemia
It features repeated urinary tract infections, kidney stones, calcium deposits in both kidneys (nephrocalcinosis), too much calcium in the urine and kidney failure. It usually starts in childhood. Other signs can include slow growth, short stature and weak tooth enamel.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated urinary tract infections
- Calcium deposits in the kidneys
- Increased urine and extreme thirst
- Stomach pain and vomiting
- Short stature and poor weight gain
- Weak tooth enamel
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 CLDN16 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 CLDN16 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cldn16 familial primary hypomagnesemia; cldn16 primary hypomagnesemia; familial primary hypomagnesemia caused by mutation in cldn16; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; fhhnc without severe ocular involvement; homg3
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 Primary hypomagnesemia.
Explore research for Primary hypomagnesemia
Explore actively recruiting Primary hypomagnesemia studies with HealthSpark.
Find actively recruiting studies for Primary hypomagnesemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Primary hypomagnesemia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Primary hypomagnesemia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Primary hypomagnesemia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.