Living with Osteopetrosis with renal tubular acidosis
A rare inherited form of osteopetrosis with dense, fracture-prone bones, kidney acid-balance problems, and developmental delay.
Understanding Osteopetrosis with renal tubular acidosis
Symptoms and severity vary greatly. Features can include fractures, short stature, pressure on nerves, low calcium with seizures, and low blood counts. Calcium deposits in the brain and developmental delay are also listed. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense, fracture-prone bones
- Repeated fractures
- Short stature
- Pressure on nerves in the head (cranial nerve compression)
- Calcium deposits in the brain
- Delayed development overall
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, brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in CA2 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); Brain and nervous system specialists (neurologists); 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 CA2 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive osteopetrosis 3; autosomal recessive osteopetrosis 3 with renal tubular acidosis; autosomal recessive osteopetrosis type 3; autosomal recessive osteopetrosis, type 3; ca2 - osteopetrosis with renal tubular acidosis; ca2 osteopetrosis (disease)
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 Osteopetrosis with renal tubular acidosis.
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