Living with Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
An inherited kidney condition where the kidneys lose magnesium and calcium, with kidney calcium deposits and sometimes serious eye problems.
Understanding Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
It causes calcium deposits in the kidneys (nephrocalcinosis) and can lead to kidney failure. Some people have severe eye problems. There are two subtypes, with and without severe eye involvement. It starts in infancy or childhood.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Loss of magnesium in the urine
- Loss of calcium in the urine
- Calcium deposits in the kidneys
- Kidney failure
- Severe eye problems in some people
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fhhnc; fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis; michellis castrillo syndrome; michellis-castrillo syndrome; primary hypomagnesemia with hypercalciuria and nephrocalcinosis
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 primary hypomagnesemia with hypercalciuria and nephrocalcinosis.
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