Living with Autosomal dominant hypophosphatemic rickets
A rare inherited condition in which the kidneys lose phosphate, leading to soft, weak bones.
Understanding Autosomal dominant hypophosphatemic rickets
Low phosphate in the blood leads to rickets (soft, weak bones in children) and/or osteomalacia (soft bones in adults). It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Bowed legs
- Soft, weak bones (rickets or osteomalacia)
- Slow growth
- Muscle weakness and tiredness
- Tooth abscesses
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 bone and joint specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in FGF23 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); 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
GARD says changes in the FGF23 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: adhr; autosomal dominant hereditary hypophosphatemic rickets; autosomal dominant hypophosphatemia; hereditary hypophosphatemic rickets, autosomal dominant; hypophosphatemia, autosomal dominant; hypophosphatemic rickets, autosomal dominant
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 Autosomal dominant hypophosphatemic rickets.
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