Living with Distal renal tubular acidosis
A kidney condition in which the body can't remove enough acid, which can slow growth, weaken bones, and cause kidney stones.
Understanding Distal renal tubular acidosis
This summary describes the form linked to the SLC4A1 gene. The extra acid in the blood (metabolic acidosis) can slow growth and soften and weaken bones (rickets in children, osteomalacia in adults). Many people have extra calcium in the urine, calcium deposits in the kidneys, and kidney stones. Some people also have blood cell differences. The complete form usually shows up in childhood, but symptoms can begin at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain and slow growth
- Short height
- Kidney stones
- Calcium deposits in the kidneys (nephrocalcinosis)
- Weak, low-density bones
- Muscle weakness
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 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
- 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
GARD describes this form as linked to the SLC4A1 gene. It can be passed down in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: albright's renal tubular acidosis; classic distal renal tubular acidosis; classic rta; distal renal tubular acidosis (disease); drta; familial distal primary acidosis
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 Distal renal tubular acidosis.
Explore research for Distal renal tubular acidosis
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