TWO CASES OF ALPORT SYNDROME
Abstract
Abstract : Alport syndrome is an inherited condition due to mutations in genes coding for alpha chains of type IV collagen. Here we present two cases, a 19 years old female and a 14 years old male with family history of consanguinity and end stage renal disease admitted with complaints of hematuria and facial puffiness respectively. On further evaluation they were found to have elevated renal parameters, anterior lenticonus and sensorineural hearing loss and were diagnosed as Alport syndrome.
Keyword :Alport Syndrome, lenticonus, sensorineural hearing loss
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