Living with Renal tubular acidosis, distal, 4, with hemolytic anemia
A rare genetic condition in which the kidneys can't clear acid properly and red blood cells break down early.
Understanding Renal tubular acidosis, distal, 4, with hemolytic anemia
The kidneys can't clear acid well, and red blood cells break down faster than normal, causing anemia. GARD lists onset in the newborn or infant period.
Signs & symptoms
GARD doesn't list common symptoms for this condition yet. It lists these less common features:
- Anemia from early breakdown of red blood cells (hemolytic anemia)
- Small red blood cells
- Increased numbers of young red blood cells
- Loss of appetite
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 blood and bone marrow specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC4A1 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
- Blood and bone marrow specialists (hematologists); 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
This condition is caused by changes in the SLC4A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: distal renal tubular acidosis 4 with hemolytic anaemia; distal renal tubular acidosis 4 with hemolytic anemia; distal renal tubular acidosis with anaemia; distal renal tubular acidosis with anemia; drta with anaemia; drta with anemia
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 Renal tubular acidosis, distal, 4, with hemolytic anemia.
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