Alport syndrome: Case report

Abstract

Alport syndrome (AS) is a group of diseases characterized by inherited alterations of the glomerular membrane in type IV collagen which composes it. AS is manifested with micro- or macroscopic hematuria; it is also associated with hearing and eye disorders. AS causes about 0.3 to 3% of pediatric End Stage Renal Disease (ESRD) A case of a 14-year old male is reported. He consulted for fever, generalized weakness and pallor of three days of evolution with a history of right eye leukocoria since birth. He referred a family history of hematuria (father and brother), hearing loss in the right ear. All this factors combined with the eye injury and chronic kidney disease raised suspicions of AS. The audiometry reveled hearing loss in the right ear and the ocular ultrasound showed vitreous condensations in the right eye. Given the family history and the patient’s own hematuria AS diagnosis was made according to Flinter´s criteria.