Abstract

ALPORT SYNDROME IN A 13 YEAR OLD BOY- A CASE REPORT

Ankitha George*, Aleena Sunny, Anjali Jayakumar, K Menaka and T. Sivakumar

ABSTRACT

Alport syndrome, also referred to as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding several members of the type IV collagen protein family. The disease accounts for approximately 3% of children and 0.2% of adults with chronic renal failure and for >1% of patients receiving renal replacement therapy. The majority of patients with chronic renal failure are male due to the X-linked inheritance pattern. The symptoms of this disease are renal manifestations, hearing loss, ocular manifestations, leiomyomatosis, arterial disease, phenotype-genotype correlation, heterozygous females with X-linked disease and Other. Here we present a case of 13 year old boy who had symptoms of hearing impairment and chronic kidney disease due to hereditarily acquired alport syndrome. The provision of rescue therapy led to the amelioration of symptoms showing the benefit of early recognition and treatment of Alport syndrome.

Keywords: Alport Syndrome, Hereditary Nephritis, end Stage Renal Failure, Sensorineural Hearing Loss.