EPSTEIN SYNDROME : A VARIANT OF ALPORT'S SYNDROME

Abstract

Alport's syndrome is characterized by disturbed type IV collagen synthesis and presents with hematuria during childhood. Sensineural hearing deficiency and eye disorders can accompany this syndrome. Alport's syndrome and macrothrombocytopenia is called Epstein syndrome. A twenty-year old female patient presented with uremia and thrombocytopenia. Thrombocyte aggression tests were performed and there was a minimal response to ADP, no response to epinephrine and normal response to ristocetin. Electron microscopic evaluation revealed mega thrombocytes and disrupted peripheral tubular system in the thrombocytes. Bilateral sensineural hearing loss and grade III hypertensive retinopathy were detected and Epstein syndrome was diagnosed. Chronic hemodialysis treatment was initiated and she is still followed at our out-patient's clinic.