A case of Alport’s syndrome: Genetic and rare disease

Abstract

Alport syndrome (AS) is a heterogeneous basement membrane disease characterised 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). Here we report a case of Alport’s syndrome with all the characteristic features. It is important to recognize Alport’s syndrome early in the course of the disease. This is facilitated by an integrated approach to diagnosis Early diagnosis can improve longevity and improve prognosis of Alport’s syndrome patients.