Overview
Primary renal tubular acidosis (RTA) is a rare kidney condition where the kidneys cannot properly remove acid from the blood into the urine. Normally, your kidneys help keep your blood at the right acid-base balance. In primary RTA, the kidney tubules — tiny tubes inside the kidneys that filter and process urine — do not work correctly, causing acid to build up in the blood. This leads to a condition called metabolic acidosis, meaning the blood becomes too acidic. There are different types of renal tubular acidosis. Primary RTA can be inherited (passed down through families) or can occur on its own without a clear cause. The most common inherited forms include distal RTA (type 1) and proximal RTA (type 2). Symptoms can vary but often include poor growth in children, kidney stones, bone softening or weakening, muscle weakness, fatigue, and excessive thirst or urination. In severe cases, especially in infants, failure to thrive and dehydration can occur. Treatment focuses on correcting the acid-base imbalance in the blood, usually with oral alkali supplements such as sodium bicarbonate or potassium citrate. With proper and consistent treatment, many patients can lead relatively normal lives. Early diagnosis and treatment are important to prevent complications like kidney damage, bone disease, and growth problems in children. Regular monitoring by a kidney specialist (nephrologist) is essential for long-term management.
Key symptoms:
Poor growth or failure to thrive in childrenKidney stonesBone pain or softening of the bonesMuscle weaknessExcessive thirstFrequent urinationFatigue and low energyNausea or vomitingLoss of appetiteDehydrationHearing loss (in some genetic forms)Rickets in children (bowed legs, bone deformities)Low potassium levels causing cramps or irregular heartbeatCalcium deposits in the kidneys (nephrocalcinosis)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Primary renal tubular acidosis.
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Specialists
View all specialists →No specialists are currently listed for Primary 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 Primary renal tubular acidosis.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of renal tubular acidosis does my child or I have, and what gene is involved?,What is the correct dose of alkali supplements, and how often should they be taken?,How often do we need blood and urine tests to monitor treatment?,Are there signs I should watch for that mean the acidosis is getting worse?,Should we have a hearing test, and if so, how often?,What should I do if I or my child becomes sick with vomiting or diarrhea and cannot take the medication?,Is genetic testing recommended for other family members?
Common questions about Primary renal tubular acidosis
What is Primary renal tubular acidosis?
Primary renal tubular acidosis (RTA) is a rare kidney condition where the kidneys cannot properly remove acid from the blood into the urine. Normally, your kidneys help keep your blood at the right acid-base balance. In primary RTA, the kidney tubules — tiny tubes inside the kidneys that filter and process urine — do not work correctly, causing acid to build up in the blood. This leads to a condition called metabolic acidosis, meaning the blood becomes too acidic. There are different types of renal tubular acidosis. Primary RTA can be inherited (passed down through families) or can occur on i