Pediatr. praxi. 2016;17(2):105-108 | DOI: 10.36290/ped.2016.024

Primary hyperoxaluria

MUDr.Dagmar Uvírová
Dětské oddělení KNTB, a. s., Zlín

We present a case study of a 4,5-year-old girl admitted to our departement for urinary tract infection. Surprising ultrasonographic

finding of renal hyperechogenity lead to further examination and finallly primary hyperoxaluria type 1 was diagnosed.

Keywords: primary hyperoxaluria, urinary tract infection, urolithiasis, end-stage renal disease

Published: May 9, 2016  Show citation

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Uvírová D. Primary hyperoxaluria. Pediatr. praxi. 2016;17(2):105-108. doi: 10.36290/ped.2016.024.
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References

  1. Watts RW. Primary hyperoxaluria type I. QJM 1994; 87: 593.
  2. Cochat P. Primary hyperoxaluria type 1. Kidney Int 1999; 55: 2533. Go to original source... Go to PubMed...
  3. Danpure CJ, Jennings PR, Fryer P, et al. Primary hyperoxaluria type 1: genotypic and phenotypic heterogenity. J Inherit Matyb Dis 1994; 17: 487. Go to original source... Go to PubMed...
  4. Danpure CJ. Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy. Nephrol Dial transplant 1995; 10 Suppl 8: 24. Go to original source... Go to PubMed...
  5. Seargeant LE, deGroot GW, Dilling LA, et al. Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children. J Pediatr 1991; 118: 912. Go to original source... Go to PubMed...
  6. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int 2009; 75: 1264. Go to original source... Go to PubMed...
  7. Cochat P, Koch Nogueira PC, Mahmoud MA, et al. Primary hyperoxaluria in infants: medical, ethical, and economic issues. J Pediatr 1999; 135: 746. Go to original source... Go to PubMed...
  8. Coulter-Mackie MB, White CT, Hurley RM, et al. Primary Hyperoxaluria Type 1. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph1 (Accessed on October 7 2012) [cit. 2015-10-21].
  9. Cochat P, Hulton SA, Acquaviva C, et al. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 2012; 27: 1729. Go to original source... Go to PubMed...
  10. Hoppe B, Groothoff JW, Hulton SA, et al. Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. Nephrol Dial Transplant 2011; 26: 3609. Go to original source... Go to PubMed...
  11. Bergstralh EJ, Monico CG, Lieske JC, et al. Transplantation outcomes in primary hyperoxaluria. Am J Transplant 2010; 10: 2493. Go to original source... Go to PubMed...
  12. Milliner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 2005; 25: 154. Go to original source... Go to PubMed...
  13. Tesař V, Schück O, et al. Klinická nefrologie. Praha: Grada Publishing 2006: 364.




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