Primary hyperoxaluria type 2
- D-glycerate dehydrogenase deficiency
- Glyceric aciduria
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- Oxalosis 2
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The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications.
To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.
- Rumsby G. Primary Hyperoxaluria Type 2. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK2692/. Accessed 1/2/2013.
- Leumann E, Hoppe B. The Primary Hyperoxalurias. JASN. September 1, 2001 ; http://jasn.asnjournals.org/content/12/9/1986.long. Accessed 1/2/2013.
- Hyperoxaluria, Primary, Type II. Online Mendelian Inheritance in Man (OMIM). November 2012; http://omim.org/entry/260000. Accessed 1/2/2013.
- Shekarriz B, Stoller ML. Hyperoxaluria. Medscape Reference. March 2011; http://emedicine.medscape.com/article/444683-overview. Accessed 1/2/2013.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- ClinicalTrials.gov lists trials that are studying or have studied Primary hyperoxaluria type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.