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Alport Syndrome

Hereditary glomerular disease caused by mutations in type IV collagen.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Alport Syndrome?

Alport syndrome results from mutations in COL4A3, COL4A4, or COL4A5 — the genes encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen, the building blocks of the glomerular basement membrane. The most common form is X-linked (COL4A5, 85%) and is more severe in males. Autosomal recessive (10-15%) and autosomal dominant (5%) forms also exist.

It is recognized by a clinical triad: hematuria (persistent microscopic or macroscopic), sensorineural hearing loss, and ocular anomalies (anterior lenticonus, peripheral retinal flecks). Renal disease progresses to end-stage renal failure in young adulthood — without treatment, the X-linked form requires dialysis or transplantation by age 30 in males.

Renal biopsy reveals on electron microscopy characteristic thickening, thinning, and basket-weave appearance of the glomerular basement membrane. Early initiation of an ACE inhibitor is the only evidence-based treatment that slows progression.

Symptoms

Persistent microscopic hematuria
Macroscopic hematuria (after URI)
Proteinuria
Progressive chronic kidney disease
Bilateral sensorineural hearing loss
Anterior lenticonus (lens deformity)
Peripheral retinal flecks
Family history of renal failure

Risk Factors

COL4A3/A4/A5 gene mutations
X-linked inheritance (more severe in males)
Family history of Alport (especially maternal side)
Male sex
Mutation type (truncating, missense)
Early-onset hearing loss
Episodes of macroscopic hematuria
Early development of proteinuria

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent microscopic hematuria
  • Family history of early-onset renal failure
  • Hematuria with sensorineural hearing loss
  • Detection of proteinuria
  • Anterior lenticonus on eye examination
  • Family history of Alport syndrome

Treatment Methods

01
Early initiation of ACE inhibitor or ARB (gold standard)
02
Strict blood-pressure control
03
Low-salt diet
04
Monitoring of proteinuria
05
Audiology testing and follow-up
06
Regular ophthalmologic examination
07
Kidney transplantation in end-stage disease
08
Genetic counseling and family screening

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.