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Other Names :  

Hereditary Nephritis / congenital hereditary hematuria

What is Alport ?  

A genetic disorder characterized by a group of inherited, heterogenous disorders that affects the basement membranes of the kidney, cochlea and eyes. The person has glomerulonephritis, end-stage kidney disease and hearing loss. Cataracts, Kkerataconus and lenticonus may also be present.

Cause(s) :  
  • Gene Mutation
Symptoms :  
  • Swelling in the ankle, feet, leg, eyes
  • Blood in the urine
  • Abnormal urine color
  • Decreased vision / complete loss of vision (mostly in males)
  • Flank pain
  • Loss of hearing (mostly in males)
  • Swelling around the eyes
  • Hypertension
  • Gradually progressive bilateral sensorineural hearing loss
Diagnosis and Tests :  
  • Family history of nephritis
  • Persistent hematuria (blood in the urine)
  • Presence of glomerular abnormalities
  • Presence of ocular lesions
  • Checking for BP
  • Audiometry for hearing- related problems
  • Blood tests-Complete blood count (CBC) and serum creatinine
  • Urinalysis
  • Kidney biopsy
  • DNA analysis to detect gene mutation
Category :  Renal Conditions

Specialist to consult :  Nephrology

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