Turkish Journal of Nephrology
Case Report

EPSTEIN SYNDROME : A VARIANT OF ALPORT'S SYNDROME

1.

İstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları AD Nefroloji BD, İstanbul

Turkish J Nephrol 2002; 11: 238-241
Read: 810 Downloads: 481 Published: 15 March 2019

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. 

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EISSN 2667-4440