A genetic disorder characterized by a group of inherited, heterogeneous 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
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Careers
