Living with Autosomal dominant Alport syndrome
A genetic condition affecting type IV collagen in the kidney, inner ear, and eye, usually showing up in adulthood.
Understanding Autosomal dominant Alport syndrome
Symptoms vary greatly and tend to start between early and late adulthood. They include blood and protein in the urine and gradual loss of kidney function. Less common features include hearing loss and eye lesions. Some people with the gene changes have no symptoms.
Signs & symptoms
GARD lists these among the less common symptoms:
- Blood in the urine
- Protein in the urine
- Gradual loss of kidney function
- Hearing loss
- Cataract (cloudy lens)
- Nearsightedness
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 COL4A3 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
GARD says changes in the COL4A3 or COL4A4 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: alport syndrome 3, autosomal dominant; alport syndrome 3a, autosomal dominant; alport syndrome dominant type; alport syndrome, autosomal dominant; ats3a; col4a3 alport syndrome and thin basement membrane nephropathy
Patient organizations
- Alport Syndrome FoundationAutosomal dominant Alport syndrome · United States
- American Association of Kidney PatientsAutosomal dominant 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 dominant Alport syndrome.
Explore research for Autosomal dominant Alport syndrome
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