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ALPORT SENDROMUNUN BİR VARYANTI: EPSTEIN SENDROMU

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EPSTEIN SYNDROME : A VARIANT OF ALPORT'S SYNDROME

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237-240

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Abstract (Original Language): 
Alport sendromu tip IV kollajen yapımında bozuklukla seyreden çocukluk çağında hematüri ile ortaya çıkan genetik bir hastalıktır. Sensorinöral işitme kaybı ve göz lezzyonlan tabloya sıklıkla eşlik eder. Burada Alport sendromuna megatrombositopeninin eşlik ettiği bir Epstein sendromu olgusu sunulmaktadır. Yirmi yaşında bayan hasta azot retansiyonu ile kliniğimize başvurduğunda trombositopenisi saptandı. Yapılan trombosit agregasyon testinde ADP ile agregasyona çok düşük yanıt, epinefrine yanıtsızlık ve ristocetin ile normal yanıt alındı. Elektron mikroskopik incelemede boy farklılıkları olan dev trombositler ve trombositlerde periferik tubuler sistem bozuklukları görüldü. Bilateral sensorinöral işitme kaybı ve grade III hipertansif retinopati saptanan hastaya Epstein sendromu tanısı konularak düzenli hemodiyaliz programına alındı.
Abstract (2. Language): 
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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REFERENCES

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