Living with Autosomal recessive hypophosphatemic bone disease
An inherited condition in which the kidneys lose phosphate, leading to soft bones and slowed growth.
Understanding Autosomal recessive hypophosphatemic bone disease
Low phosphate in the blood can cause rickets or osteomalacia, which are soft bones. Features include slow growth, short height, bone deformities, muscle weakness, and bone pain. Onset is listed as infancy and childhood. People may also have extra calcium in the urine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Softening of the bones (osteomalacia)
- Slow growth
- Lower bone density
- Kidney stones
- Calcium buildup in the kidneys (nephrocalcinosis)
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 SLC34A3 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
It is caused by changes in the SLC34A3 gene. GARD lists both autosomal recessive and autosomal dominant inheritance.
Also known as: hereditary hypophosphatemic rickets with hypercalciuria; hhrh; hhrh - hereditary hypophosphatemic rickets with hypercalciuria; hypercalciuric hypophosphatemic rickets; hypercalciuric rickets; hypophosphatemic hypercalciuric rickets
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 recessive hypophosphatemic bone disease.
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