Primary hyperoxaluria [3 genes]

Oxalate is produced mainly endogenously (glycine, hydroxyproline, and glycolate metabolism). Primary hyperoxaluria is an autosomal recessive metabolic disorder characterized by excessive production of oxalate, with
deposition in different kinds of tissues (particularly in the kidney). There are different types of hyperoxaluria: type I, due to peroxisomal alanine-glyoxylate aminotransferase deficiency (encoded by AGXT); type II, due to cytosolic
glyoxylate reductase/hydroxypyruvate reductase deficiency (encoded by GRHPR); and type III, due to 4-hydroxy-2-oxoglutarate aldolase deficiency (encoded by HOGA1).

  • Recurrent renal lithiasis
  • Nephrocalcinosis
  • Early terminal kidney failure
  • Massive deposition of calcium oxalate in tissues (oxalosis)

Prevalence: 1-3/1,000,000

  • Etiologic diagnosis
  • Genetic counseling
  • Hydration, pyridoxine, urinary crystallization inhibitors, kidney or liver-kidney transplantation

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Primary hyperoxaluria

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906671

Primary hyperoxaluria: View panel
  • AGXT
  • GRHPR
  • HOGA1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Nov 28;369(22):2168. PMID: 23944302 DOI: 10.1056/NEJMra1301564
  2. Lorenzo V, Torres A, Salido E. Hiperoxaluria primaria. Nefrologia. 2014 May 21;34(3):398-412. doi: 10.3265/Nefrologia.pre2014.Jan.12335. Epub 2014 Apr 30. PMID: 24798559 DOI: 10.3265/Nefrologia.pre2014.Jan.12335.