Living with Adenine phosphoribosyltransferase deficiency
An inherited condition that affects the kidneys and urinary tract, most often causing repeated kidney stones.
Understanding Adenine phosphoribosyltransferase deficiency
The most common feature is repeated kidney stones, and stones in the urinary tract are also common. Signs can start anywhere from infancy to late adulthood. In babies, the first sign may be tiny reddish-brown grains in the diaper. Without treatment, kidney function can decline. About 15 to 20 percent of people with APRT deficiency have no signs or symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney stones (nephrolithiasis)
- Painful or difficult urination
- Chronic kidney disease
- Sudden kidney injury
- Kidney failure (renal insufficiency)
- High blood pressure
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.
- 3Consider genetic testing
Changes in APRT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the APRT gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 2,8-dihydroxyadenine urolithiasis; 2,8-dihydroxyadeninuria disease; adenine phosphoribosyl transferase deficiency; aprt deficiency; aprtd; deficiency of adenine phosphoribosyltransferase
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 Adenine phosphoribosyltransferase deficiency.
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