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Primary hyperoxaluria with development of renal failure during infancy: Report of two cases

Year 2012, Volume: 39 Issue: 4, 582 - 584, 01.12.2012
https://doi.org/10.5798/diclemedj.0921.2012.04.0206

Abstract

Primary hyperoxaluria is a rare genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. We, herein report two cases of primary hyperoxaluria with renal failure in infancy.

References

  • Ajzensztejn MJ, Sebire NJ, Trompeter RS et al. Primary Hy- peroxaluria type 1. Arch Dis Child. 2007;92(2):197.
  • Cochat P, Fargue S, Harambat J. Primary Hyperoxaluria. Pediatric Nephrology. In: Avner ED, Harmon W, Niaudet P, Yoshikawa N (eds). 6th Edition Springer-Verlag, Heidel- berg, 2009;pp:1093-1103.
  • Cochat P, Liutkus A, Fargue S, et al. Primary hyper- oxaluria type 1: still challenging Pediatr Nephrol 2006;21(10):1075–1081.
  • Khoo JJ, Pee S, Kamaludin DP. Infantile primary hyper- oxaluria type 1 with end stage renal failure. Pathology 2006;38(3): 371-4.
  • Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol 2001;12(9):1986-1993.
  • Monico CG, Rossetti S, Olson JB, Milliner DS. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 2005;67(5):1704- 1709.
  • Collard L, Amore A, Bensman A, et al. Combined liver kid- ney transplantation in children: multi-centre report. Pediatr Nephrol 2006;21(12):1514.

İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu

Year 2012, Volume: 39 Issue: 4, 582 - 584, 01.12.2012
https://doi.org/10.5798/diclemedj.0921.2012.04.0206

Abstract

Primer hiperokzalüri (PH), okzalatın aşırı sistemik üretimine yol açan, nadir görülen gliokzalat metabolizma bozukluğudur. Okzalatın aşırı üretimi ve idrarla atılımının artması, tekrarlayan üriner sistem taşları ve nefrokalsinozis ile sonuçlanır. Vücutta okzalat birikimi sistemik okzalozise neden olur ve glomeruler filtrasyon hızı ilerleyici böbrek tutulumuna bağlı olarak azalır. İnfantil dönemde PH tanısı alan ve böbrek yetmezliği gelişen iki vaka sunulmuştur.

References

  • Ajzensztejn MJ, Sebire NJ, Trompeter RS et al. Primary Hy- peroxaluria type 1. Arch Dis Child. 2007;92(2):197.
  • Cochat P, Fargue S, Harambat J. Primary Hyperoxaluria. Pediatric Nephrology. In: Avner ED, Harmon W, Niaudet P, Yoshikawa N (eds). 6th Edition Springer-Verlag, Heidel- berg, 2009;pp:1093-1103.
  • Cochat P, Liutkus A, Fargue S, et al. Primary hyper- oxaluria type 1: still challenging Pediatr Nephrol 2006;21(10):1075–1081.
  • Khoo JJ, Pee S, Kamaludin DP. Infantile primary hyper- oxaluria type 1 with end stage renal failure. Pathology 2006;38(3): 371-4.
  • Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol 2001;12(9):1986-1993.
  • Monico CG, Rossetti S, Olson JB, Milliner DS. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 2005;67(5):1704- 1709.
  • Collard L, Amore A, Bensman A, et al. Combined liver kid- ney transplantation in children: multi-centre report. Pediatr Nephrol 2006;21(12):1514.
There are 7 citations in total.

Details

Primary Language Turkish
Journal Section Case Reports
Authors

Ahmet Midhat Elmacı This is me

Ahmet Baran This is me

Publication Date December 1, 2012
Submission Date March 2, 2015
Published in Issue Year 2012 Volume: 39 Issue: 4

Cite

APA Elmacı, A. M., & Baran, A. (2012). İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu. Dicle Tıp Dergisi, 39(4), 582-584. https://doi.org/10.5798/diclemedj.0921.2012.04.0206
AMA Elmacı AM, Baran A. İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu. diclemedj. December 2012;39(4):582-584. doi:10.5798/diclemedj.0921.2012.04.0206
Chicago Elmacı, Ahmet Midhat, and Ahmet Baran. “İnfantil dönemde böbrek yetmezliği gelişen Primer hiperokzalüri: İki Olgu Sunumu”. Dicle Tıp Dergisi 39, no. 4 (December 2012): 582-84. https://doi.org/10.5798/diclemedj.0921.2012.04.0206.
EndNote Elmacı AM, Baran A (December 1, 2012) İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu. Dicle Tıp Dergisi 39 4 582–584.
IEEE A. M. Elmacı and A. Baran, “İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu”, diclemedj, vol. 39, no. 4, pp. 582–584, 2012, doi: 10.5798/diclemedj.0921.2012.04.0206.
ISNAD Elmacı, Ahmet Midhat - Baran, Ahmet. “İnfantil dönemde böbrek yetmezliği gelişen Primer hiperokzalüri: İki Olgu Sunumu”. Dicle Tıp Dergisi 39/4 (December 2012), 582-584. https://doi.org/10.5798/diclemedj.0921.2012.04.0206.
JAMA Elmacı AM, Baran A. İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu. diclemedj. 2012;39:582–584.
MLA Elmacı, Ahmet Midhat and Ahmet Baran. “İnfantil dönemde böbrek yetmezliği gelişen Primer hiperokzalüri: İki Olgu Sunumu”. Dicle Tıp Dergisi, vol. 39, no. 4, 2012, pp. 582-4, doi:10.5798/diclemedj.0921.2012.04.0206.
Vancouver Elmacı AM, Baran A. İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu. diclemedj. 2012;39(4):582-4.