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Sub-Category:

Multisystem Disorders

Number of Conditions: 1

Alport syndrome (hearing loss, kidney disease)

Specialty: Genetics

Category: Other Genetic Syndromes

Sub-category: Multisystem Disorders

Symptoms:
hematuria (blood in urine); progressive hearing loss; proteinuria; kidney failure; ocular abnormalities in some cases

Root Cause:
Mutations in the COL4A3, COL4A4, or COL4A5 genes affecting type IV collagen, a structural component of the kidneys, cochlea, and eyes.

How it's Diagnosed: videos
Urinalysis, kidney biopsy, audiometry, eye examinations, and genetic testing.

Treatment:
Management includes blood pressure control, ACE inhibitors to slow kidney damage, hearing aids, and eventually dialysis or kidney transplantation for kidney failure.

Medications:
ACE inhibitors and ARBs (angiotensin receptor blockers) are the primary medications to slow kidney disease progression.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 50,000 newborns.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Alport syndrome or related kidney diseases.

Prognosis: The expected outcome or course of the condition over time.
Kidney failure often occurs by the second or third decade of life in males; milder symptoms in females. Hearing aids and kidney transplantation can improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
End-stage renal disease, deafness, and eye abnormalities such as anterior lenticonus or corneal erosions.