Abstract
Herediter ksantinüri, doğuştan ksantin dehidrogenaz enzim eksikliğinin neden olduğu, nadir görülen, otozomal resesif geçişli, pürin metabolizma bozukluğudur. Yaklaşık 6 aydır huzursuzluk, idrar renginde koyulaşma ve taş düşürme şikayeti ile getirilen 11 aylık erkek hastanın serum ve idrar ürik asit düzeyleri normalden düşüktü. Üriner ultrasonografisi normal olan hastanın taş analiz sonucu, hipoksantin taşı olarak rapor edildi. Herediter ksantinüri, çocukluk çağı böbrek taşı hastalığının nadir bir sebebi olduğu için bu vaka sunulmuştur.
Keywords
References
- Alon US, Srivastava T. Urolithiasis. In: Kher KK, Schnaper HW, Makker SP (eds). Clinical Pediatric Ne- phrology, 2nd edn. Informa UK ltd 2007; pp:539-551.
- Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H. XDH gene mutation is the underlying cause of classical xanthin- uria: a second report. Kidney Int 2000;57:2215-2220.
- Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A. Nephrolithiasis related to inborn metabolic diseases. Pediatr Nephrol 2010;25:415-424.
- Fujiwara Y, Kawakami Y, Shinohara Y, Ichida K. A case of hereditary xanthinuria type 1 accompanied by bi- lateral renal calculi. Intern Med 2012;51:1879-1884.
- Arikyants N, Sarkissian A, Hesse A, Eggermann T, Leu- mann E, Steinmann B. Xanthinuria type I: a rare cause of urolithiasis. Pediatr Nephrol 2007;22:310-314.
- Serdaroğlu E, Ural R, Çalkavur Ş, Ağın H, Bak M. Bir olgu nedeniyle klasik ksantinüri. ADÜ Tıp Fakültesi Dergisi 2003;4:29-31.
- Aguilar-Ruiz J, Arrabal-Polo MA, Sierra M, Arrabal- Martin M. Application of mineralogical techniques in the study of human lithiasis. Ultrastruct Pathol 2012;36:367-376.
Abstract
Hereditary xanthinuria is a novel autosomal recessive disorder of purine metabolism resulting from the deficiency of xanthine dehydrogenase. An 11-month-old boy admitted with the complaints of irritability for 6 months, darkening of the urine and spontaneous passage of stone. Both serum and urine levels of uric acid were below normal. Urinary ultrasonography was normal. Stone analysis revealed that it was a hypoxanthine stone. The case is reported because hereditary xanthinuria is a rare cause of childhood urolithiasis. J Clin Exp Invest 2014; 5 (1): 128-130
References
- Alon US, Srivastava T. Urolithiasis. In: Kher KK, Schnaper HW, Makker SP (eds). Clinical Pediatric Ne- phrology, 2nd edn. Informa UK ltd 2007; pp:539-551.
- Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H. XDH gene mutation is the underlying cause of classical xanthin- uria: a second report. Kidney Int 2000;57:2215-2220.
- Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A. Nephrolithiasis related to inborn metabolic diseases. Pediatr Nephrol 2010;25:415-424.
- Fujiwara Y, Kawakami Y, Shinohara Y, Ichida K. A case of hereditary xanthinuria type 1 accompanied by bi- lateral renal calculi. Intern Med 2012;51:1879-1884.
- Arikyants N, Sarkissian A, Hesse A, Eggermann T, Leu- mann E, Steinmann B. Xanthinuria type I: a rare cause of urolithiasis. Pediatr Nephrol 2007;22:310-314.
- Serdaroğlu E, Ural R, Çalkavur Ş, Ağın H, Bak M. Bir olgu nedeniyle klasik ksantinüri. ADÜ Tıp Fakültesi Dergisi 2003;4:29-31.
- Aguilar-Ruiz J, Arrabal-Polo MA, Sierra M, Arrabal- Martin M. Application of mineralogical techniques in the study of human lithiasis. Ultrastruct Pathol 2012;36:367-376.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 1, 2014 |
| Published in Issue | Year 2014 Volume: 5 Issue: 1 |