DISEASE SCANNER
Global Incurable Diseases Tracker
Alport Syndrome
A genetic disorder affecting the collagen network of the glomerular basement membrane, causing progressive kidney disease, hearing loss, and eye abnormalities. Caused by mutations in COL4A3, COL4A4, or COL4A5 genes. X-linked form most common and severe in males.
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15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Urinalysis (persistent hematuria)
- 2Genetic testing
- 3Skin biopsy (type IV collagen)
- 4Kidney biopsy with immunofluorescence
- 5Hearing tests
- 6Ophthalmologic examination
Prognosis
X-linked: males develop ESRD by age 16-35; females have milder disease. Autosomal recessive: similar to X-linked males. Early ACE inhibitor therapy delays ESRD by 10+ years.
Prevention
- Genetic counseling
- Family screening
- Early ACE inhibitor therapy
- Avoid nephrotoxic drugs
- Regular monitoring
Research Status
No cure; ACE inhibitors/ARBs slow progression. Renin-angiotensin-aldosterone system blockade standard care. Kidney transplantation effective; anti-GBM disease rare post-transplant. Gene therapy research ongoing.
Affected Countries
Sources
- https://www.kidney.org/atoz/content/alport-syndrome
- https://www.ncbi.nlm.nih.gov/books/NBK1207
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.