Living with Proximal renal tubular acidosis
A rare kidney condition in which the kidneys can't hold on to bicarbonate, so acid builds up in the blood.
Understanding Proximal renal tubular acidosis
This causes acid to build up in the blood (metabolic acidosis). It can start at any time in life. GARD lists slow growth and weight gain, and vomiting, among common features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow weight gain (failure to thrive)
- Slow growth
- Vomiting
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 lists both autosomal dominant and autosomal recessive inheritance. It doesn't name a gene here.
Also known as: bicarbonate reabsorption defect; proximal tubular acidosis; prta; renal tubular acidosis type 2; renal tubular acidosis, proximal; renal tubular acidosis, rate type
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 Proximal renal tubular acidosis.
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