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Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu

Year 2006, Volume: 23 Issue: 2, 65 - 68, 30.12.2009

Abstract

A case of primary hyperoxaluria developing end stage renal failure in infancy
Primary hyperoxaluria is a rare, autosomal recessive inherited disease which is characterised by recurrent urolithiasis, nephrocalcinosis and oxalate deposition throughout the body. We present here 45 days old male infant with early onset nephrocalcinosis and end stage renal disease due to primary hyperoxaluria.


Primer hiperokzalüri, otozomal resesif geçiş gösteren, tekrarlayan üriner sistem taşlan, nef-rokalsinozis ve tüm vücutta okzalat birikimi ile karakterize nadir bir hastalıktır. Burada erken dönemde nefrokalsinozis ve son dönem böbrek yetmezliği gelişen primer hiperokzalürili 45 günlük bir erkek bebek sunulmuştur.

References

  • 1. Kopp N, Leumann E. Changing pattern of primary hyperoxaluria in Switzerland. Nephrol Dial Transplant. 1995; 10: 2224–7.
  • 2. Danpure CJ. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase. Biochimie. 1993; 75: 309–15.
  • 3. Petrarulo M, Vitale C, Facchini P,et al. Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update. J Nephrol. 1998; 11 Suppl 1: 23–8.
  • 4. Noguera PK, Vuong TS, Bouton O, et al. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. Hum Mutat. 2000; 15: 3 8 4 – 3 8 5 .
  • 5. Johnson SA, Rumsby G, Cregeen D, et al. Primary hyperoxaluria type 2 in children. Pediatr Nephrol. 2002; 17: 597–601.
  • 6. Danpure CJ, Jennings PR, Fryer P, et al. Primary hyperoxaluria type 1: genotypic and phenotypic h e terogeneity. J.Inherit Metab Dis.1994; 17: 487–99.
  • 7. Small KW, Letson R, Scheinman J. Ocular findings in primary hyperoxaluria. Arch Ophthalmol. 1990; 108: 89–93.
  • 8. Desmond P, Hennessy O. Skeletal abnormalities in primary oxalosis. Australas Radiol. 1993; 37: 83–5.
  • 9. Diaz C, Catalinas FG, Alvaro F, et al. Long daily hemodialysis sessions correct systemic complications of oxalosis prior to combined liver-kidney transplantation: case report. The Apher Dial. 2004; 8: 52–5.
  • 10. Pirulli D, Marangella M, Amoroso A. Primary h y p e r o x a l u r i a : genotype-phenotype correlation. J Nephrol. 2003; 16: 297–309.
  • 11. Cochat P, Gaulier JM, Koch Noguera PC, et al. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr. 1999; 158: 75–80.
  • 12. Oner A, Demircin G, Tinaztepe K, et al. Fatal outcome of infantile oxalosis: case reports from three families and a review of literature. Turk J Pediatr. 1998; 40: 237–243.
  • 13. Danpure CJ. Molecular aetiology of primary h y p e r o x a l u r i a type 1. Nephron Exp Nephrol. 2004; 98: 39–44.
  • 14. Scheinman LI. Primary hyperoxaluria. Miner Electrolyte Metab. 1994; 20; 340–351.
  • 15. Chetyrkin SV, Kim D, Belmont JM, et al. Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary h y p e r o x a l u r i a . Kidney Int. 2005; 67: 53–60.
  • 16. Delibafl A, Erdo¤an Ö, Bek K ve ark. Çocuklarda primer hiperokzalüriye ba¤l› kronik böbrek yetmezli¤i. Türk Nefroloji ve Transplantasyon Dergisi 2003; 12: 117–121.
  • 17. Cochat P.Basmaison O. Current approachs to the management of primary hyperoxaluri. Arch Dis Child 2000: 82: 470–473.
  • 18. Latta K, Brodehl J. Primary hyperoxaluria type I. Eur J Pediatr. 1990;149: 518–22.
  • 19. Leuman E, Pediatr Nephrol 1993; 7: 207–211.
  • 20. Uri S, Alon MD. The Pediatric Clinics Of North America Pediatric Nephrology 1995; 1397–1413.
Year 2006, Volume: 23 Issue: 2, 65 - 68, 30.12.2009

Abstract

References

  • 1. Kopp N, Leumann E. Changing pattern of primary hyperoxaluria in Switzerland. Nephrol Dial Transplant. 1995; 10: 2224–7.
  • 2. Danpure CJ. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase. Biochimie. 1993; 75: 309–15.
  • 3. Petrarulo M, Vitale C, Facchini P,et al. Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update. J Nephrol. 1998; 11 Suppl 1: 23–8.
  • 4. Noguera PK, Vuong TS, Bouton O, et al. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. Hum Mutat. 2000; 15: 3 8 4 – 3 8 5 .
  • 5. Johnson SA, Rumsby G, Cregeen D, et al. Primary hyperoxaluria type 2 in children. Pediatr Nephrol. 2002; 17: 597–601.
  • 6. Danpure CJ, Jennings PR, Fryer P, et al. Primary hyperoxaluria type 1: genotypic and phenotypic h e terogeneity. J.Inherit Metab Dis.1994; 17: 487–99.
  • 7. Small KW, Letson R, Scheinman J. Ocular findings in primary hyperoxaluria. Arch Ophthalmol. 1990; 108: 89–93.
  • 8. Desmond P, Hennessy O. Skeletal abnormalities in primary oxalosis. Australas Radiol. 1993; 37: 83–5.
  • 9. Diaz C, Catalinas FG, Alvaro F, et al. Long daily hemodialysis sessions correct systemic complications of oxalosis prior to combined liver-kidney transplantation: case report. The Apher Dial. 2004; 8: 52–5.
  • 10. Pirulli D, Marangella M, Amoroso A. Primary h y p e r o x a l u r i a : genotype-phenotype correlation. J Nephrol. 2003; 16: 297–309.
  • 11. Cochat P, Gaulier JM, Koch Noguera PC, et al. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr. 1999; 158: 75–80.
  • 12. Oner A, Demircin G, Tinaztepe K, et al. Fatal outcome of infantile oxalosis: case reports from three families and a review of literature. Turk J Pediatr. 1998; 40: 237–243.
  • 13. Danpure CJ. Molecular aetiology of primary h y p e r o x a l u r i a type 1. Nephron Exp Nephrol. 2004; 98: 39–44.
  • 14. Scheinman LI. Primary hyperoxaluria. Miner Electrolyte Metab. 1994; 20; 340–351.
  • 15. Chetyrkin SV, Kim D, Belmont JM, et al. Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary h y p e r o x a l u r i a . Kidney Int. 2005; 67: 53–60.
  • 16. Delibafl A, Erdo¤an Ö, Bek K ve ark. Çocuklarda primer hiperokzalüriye ba¤l› kronik böbrek yetmezli¤i. Türk Nefroloji ve Transplantasyon Dergisi 2003; 12: 117–121.
  • 17. Cochat P.Basmaison O. Current approachs to the management of primary hyperoxaluri. Arch Dis Child 2000: 82: 470–473.
  • 18. Latta K, Brodehl J. Primary hyperoxaluria type I. Eur J Pediatr. 1990;149: 518–22.
  • 19. Leuman E, Pediatr Nephrol 1993; 7: 207–211.
  • 20. Uri S, Alon MD. The Pediatric Clinics Of North America Pediatric Nephrology 1995; 1397–1413.
There are 20 citations in total.

Details

Primary Language English
Journal Section Basic Medical Sciences
Authors

M. Akbalık This is me

K. Bek This is me

Ş. Karadeniz This is me

O. Özkaya This is me

Ç.s. Taşdöven This is me

M.k. Baysal This is me

Publication Date December 30, 2009
Submission Date October 26, 2009
Published in Issue Year 2006 Volume: 23 Issue: 2

Cite

APA Akbalık, M., Bek, K., Karadeniz, Ş., Özkaya, O., et al. (2009). Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu. Journal of Experimental and Clinical Medicine, 23(2), 65-68. https://doi.org/10.5835/jecm.v23i2.49
AMA Akbalık M, Bek K, Karadeniz Ş, Özkaya O, Taşdöven Ç, Baysal M. Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu. J. Exp. Clin. Med. December 2009;23(2):65-68. doi:10.5835/jecm.v23i2.49
Chicago Akbalık, M., K. Bek, Ş. Karadeniz, O. Özkaya, Ç.s. Taşdöven, and M.k. Baysal. “Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu”. Journal of Experimental and Clinical Medicine 23, no. 2 (December 2009): 65-68. https://doi.org/10.5835/jecm.v23i2.49.
EndNote Akbalık M, Bek K, Karadeniz Ş, Özkaya O, Taşdöven Ç, Baysal M (December 1, 2009) Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu. Journal of Experimental and Clinical Medicine 23 2 65–68.
IEEE M. Akbalık, K. Bek, Ş. Karadeniz, O. Özkaya, Ç. Taşdöven, and M. Baysal, “Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu”, J. Exp. Clin. Med., vol. 23, no. 2, pp. 65–68, 2009, doi: 10.5835/jecm.v23i2.49.
ISNAD Akbalık, M. et al. “Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu”. Journal of Experimental and Clinical Medicine 23/2 (December 2009), 65-68. https://doi.org/10.5835/jecm.v23i2.49.
JAMA Akbalık M, Bek K, Karadeniz Ş, Özkaya O, Taşdöven Ç, Baysal M. Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu. J. Exp. Clin. Med. 2009;23:65–68.
MLA Akbalık, M. et al. “Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu”. Journal of Experimental and Clinical Medicine, vol. 23, no. 2, 2009, pp. 65-68, doi:10.5835/jecm.v23i2.49.
Vancouver Akbalık M, Bek K, Karadeniz Ş, Özkaya O, Taşdöven Ç, Baysal M. Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu. J. Exp. Clin. Med. 2009;23(2):65-8.