Living with Primary Fanconi syndrome
A kidney condition in which the kidneys don't absorb important substances back into the body, affecting growth, bones and hydration.
Understanding Primary Fanconi syndrome
Symptoms can start at any age and can include slow growth, fragile bones, frequent urination and dehydration, as well as weakness, tremors and fatigue. It can occur alone or as part of other diseases. Diagnosis is based on symptoms, an exam and urine tests.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Bone pain and fragile bones
- Muscle weakness
- Softening of the bones (osteomalacia)
- Weight loss
- Chronic kidney disease
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
Primary Fanconi syndrome may be caused by changes in one of several genes and can run in families, in autosomal dominant or recessive patterns. Fanconi syndrome can also be part of another condition or a side effect of some medicines and environmental exposures.
Also known as: congenital fanconi syndrome; de toni-fanconi-debre syndrome; detoni-debré-fanconi syndrome; primary fanconi renal syndrome; primary fanconi renotubular syndrome; primary toni-debre-fanconi syndrome
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 Fanconi syndrome.
Explore research for Primary Fanconi syndrome
Explore actively recruiting Primary Fanconi syndrome studies with HealthSpark.
Find actively recruiting studies for Primary Fanconi syndrome 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 Fanconi syndrome 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 Fanconi syndrome
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 Fanconi syndrome 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.