Living with Autosomal recessive Alport syndrome
A genetic condition that affects the kidneys, hearing, and eyes.
Understanding Autosomal recessive Alport syndrome
Most people have kidney function that slowly gets worse over time. Hearing loss from the inner ear (sensorineural) is common. The eye differences seldom lead to vision loss. About 15 percent of Alport syndrome cases are inherited in this recessive pattern. Onset is listed as childhood.
Signs & symptoms
GARD describes these main features:
- Kidney function that gets worse over time
- Inner ear hearing loss (sensorineural)
- Eye differences that seldom affect vision
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 ear, nose, and throat specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in COL4A4 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
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); 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 Alport Syndrome 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
It is caused by changes in both copies of the COL4A3 or COL4A4 gene. A child inherits a changed copy of the gene from each parent.
Also known as: alport syndrome 2, autosomal recessive; alport syndrome type 2; alport syndrome, autosomal recessive; ats2; col4a4 alport syndrome and thin basement membrane nephropathy
Patient organizations
- Alport Syndrome FoundationAutosomal recessive Alport syndrome · United States
- American Association of Kidney PatientsAutosomal recessive Alport syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive Alport syndrome.
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