Overview
Autosomal recessive distal renal tubular acidosis (AR dRTA) is a rare inherited kidney condition in which the kidneys cannot properly remove acid from the blood into the urine. Normally, special cells in the collecting ducts of the kidney pump acid out of the body. In AR dRTA, genetic changes cause these acid pumps to malfunction, leading to a buildup of acid in the blood — a condition called metabolic acidosis. This ongoing acid buildup can cause a wide range of problems throughout the body. The disease typically appears in infancy or early childhood. Affected children often have poor growth, failure to thrive, vomiting, dehydration, and may develop kidney stones or calcium deposits in the kidneys (called nephrocalcinosis). Some forms of AR dRTA also cause progressive hearing loss (sensorineural deafness), which can range from mild to severe. If untreated, the chronic acid buildup can weaken bones, leading to rickets in children or osteomalacia in adults, and may eventually damage the kidneys. The main treatment is lifelong alkali supplementation — medicines like sodium bicarbonate or potassium citrate that neutralize the excess acid in the blood. When started early and taken consistently, this treatment can dramatically improve growth, prevent kidney stones, protect bones, and preserve kidney function. However, hearing loss associated with certain genetic forms may still progress despite treatment. With proper management, many patients can lead relatively normal lives, though regular monitoring by kidney specialists is essential.
Also known as:
Key symptoms:
Poor growth and failure to thrive in infancyFrequent vomitingDehydrationKidney stonesCalcium deposits in the kidneys (nephrocalcinosis)Hearing loss that may worsen over timeWeak or soft bones (rickets in children)Muscle weaknessExcessive thirst and frequent urinationLoss of appetiteFatigue and low energyConstipationDelayed development or short statureLow potassium levels causing muscle cramps
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive distal renal tubular acidosis.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive distal renal tubular acidosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive distal renal tubular acidosis.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene is affected in my child's case, and does this mean hearing loss is likely?,What is the target bicarbonate level we should aim for with treatment?,How often should blood tests, kidney ultrasounds, and hearing tests be done?,What should I do if my child is vomiting and cannot keep the medication down?,Are there any signs I should watch for that would require emergency care?,Will my child's growth catch up with treatment, and should we monitor bone health?,What are the chances that future children could also have this condition?
Common questions about Autosomal recessive distal renal tubular acidosis
What is Autosomal recessive distal renal tubular acidosis?
Autosomal recessive distal renal tubular acidosis (AR dRTA) is a rare inherited kidney condition in which the kidneys cannot properly remove acid from the blood into the urine. Normally, special cells in the collecting ducts of the kidney pump acid out of the body. In AR dRTA, genetic changes cause these acid pumps to malfunction, leading to a buildup of acid in the blood — a condition called metabolic acidosis. This ongoing acid buildup can cause a wide range of problems throughout the body. The disease typically appears in infancy or early childhood. Affected children often have poor growth
How is Autosomal recessive distal renal tubular acidosis inherited?
Autosomal recessive distal renal tubular acidosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive distal renal tubular acidosis typically begin?
Typical onset of Autosomal recessive distal renal tubular acidosis is infantile. Age of onset can vary across affected individuals.