Living with Autosomal recessive distal renal tubular acidosis
A rare inherited kidney condition in which the kidneys lose bicarbonate, affecting growth and bones.
Understanding Autosomal recessive distal renal tubular acidosis
The summary describes a defect in part of the kidney (the proximal tubule) that does not take back enough bicarbonate. Beyond the kidneys, it can cause mild slowing of growth and lower bone density. Several fractures and delayed puberty are possible. Onset is listed as infancy and childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Bicarbonate lost in the urine
- Mild slowing of growth
- Lower bone density
- Several bone fractures (possible)
- Delayed puberty (possible)
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 ear, nose, and throat specialists, 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
- Ear, nose, and throat specialists (otolaryngologists); 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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: ar drta; autosomal recessive distal renal tubular acidosis (disease); autosomal recessive distal rta; distal renal tubular acidosis (disease), autosomal recessive
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 distal renal tubular acidosis.
Explore research for Autosomal recessive distal renal tubular acidosis
Explore actively recruiting Autosomal recessive distal renal tubular acidosis studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive distal renal tubular acidosis 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 Autosomal recessive distal renal tubular acidosis 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 Autosomal recessive distal renal tubular acidosis
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 Autosomal recessive distal renal tubular acidosis 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.