Abstract :
Alport syndrome is a rare genetic disorder of specialized basement membranes in the kidney, ear, and eye,
characterized by haematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL) and
pathognomonic ocular lesions. It is one of the spectra of diseases representing hereditary nephritis, which inevitably leads to
end-stage renal disease (ESRD). Microscopic or frank haematuria persistent from childhood constitutes the clinical clue for
its early recognition. It occurs as a result of genetically inherited or de novo mutations in type IV collagen genes. The most
common mode of inheritance is X-linked and men are more severely affected. We report a case of a middle aged man, in his
fourth decade of life presenting with persistent haematuria, thrombocytopenia associated with SNHL and anterior
lenticonus, diagnosed as a previously undetected case of Alport syndrome.
Keyword :
alport’s, end-stage renal disease (ESRD), sensorineural hearing loss, syndrome