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PRÎMER HIPEROKSALÜRILI IKI KARDEŞTE TANı VE IZLEM

THE DIAGNOSIS AND FOLLOW-UP IN TWO BROTHERS WITH PRIMARY HYPEROXALURIA

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Abstract (2. Language): 
A 16 year old boy with end stage renal disease secondary to bilateral urolithiasis underwent bilateral nephrectomy because of recurrent urinary tract infections.Histopathologic examination of the renal tissue was compatible with oxalosis.After that, the ounger brother of the patient was found to excrete high levels of oxalate in the urine.Thus, the diagnosis of primary hyperoxaluria was made in these siblings. We think that the patients being evaluated for renal transplantation due to end stage renal disease and having a family history of urolithiasis should also be evaluated for primary hyperoxaluria, taking the high rate of consanguinous marriage in our population into consideration.However, it is difficult to make the diagnosis of primary renal disease after end stage renal disease ensues.Thus, in the patients with nephrocalcinosis and / or renal stones undergoing to chronic hemodialysis, evaluation of the renal tissue could be considered in revealing the underlying etiology, since the clinical and laboratory data related to primary hyperoxaluria are limited.
Abstract (Original Language): 
Son dönem böbrek hastalığına ulaşmış, bilateral böbrek taş hastalığı saptanan 16 yaşında erkek hastaya kronik hemodiyaliz tedavisi başlandıktan sonra, böbrek taş hastalığı ve tekrarlayan idrar yolu enfeksiyonları nedeni ile total nefrektomi uygulandı. Nefrektomi materyali oksalozis ile uyumlu bulundu. Olgunun dörtbuçuk yaşındaki erkek kardeşi incelendiğinde, idrarda yüksek oksalat atılımı bulundu ve primer hiperoksalüri tanısı aldı. Özellikle soygeçmişinde böbrek taş hastalığı olan, kronik böbrek yetmezliği nedeni ile böbrek transplantasyonuna hazırlanan hastalarda, ülkemizde akraba evliliğinin sıklığı da gözönüne alınarak primer hiperoksalüri için daha yakından inceleme yapılması gerekmektedir. Primer hiperoksalüri ile ilişkili klinik ve laboratuvar verilerin kısıtlılığı nedeni ile, kronik hemodiyaliz programında bulunan nefrokalsinozis ve/veya böbrek taş hastalığı olan olgularda doku incelemesi etyolojinin aydınlatılmasını sağlayabilir.
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REFERENCES

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