Alport Syndrome (Hereditary Nephritis)

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Presentation :

• Glomerulonephritis associated with sensorineural hearing loss and vision loss w/ characteristic ocular findings such as lenticonus
• Proteinuria, hypertension, and CKD usually develop over time.

Pathophysiology :

• Results from mutations in type IV collagen, akin to Thin Glomerular Basement Membrane Disease (Benign Familial Hematuria)
• There are three genetic variants:
  • X-linked (80%)
  • Autosomal recessive (15%)
  • Autosomal dominant (5%). Females with the X-linked variant can be asymptomatic carriers or can develop kidney disease depending on activity of the X chromosome in somatic renal cells.

Diagnostic Testing:

• Diagnosis has traditionally been made by kidney biopsy with electron microscopy
• In patients with a well-documented family history and microscopic hematuria, diagnosis is increasingly being made by genetic testing

Treatment :

• Management is supportive, including blood pressure control with RAS blockade

Prognosis:

• End-stage kidney disease occurs between the late teenage years and the fourth decade of life

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