Primary hyperoxaluria type 2
- D-glycerate dehydrogenase deficiency
- Glyceric aciduria
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- L-glyceric aciduria
Your QuestionMy son was recently diagnosed with primary hyperoxaluria type 2. Is this something that he can eventually outgrow? Can his liver repair itself and begin producing the missing enzyme? If not, is there any chance of him leading a full life or will he develop end stage renal disease before he has a chance to get old and gray?
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Questions on this page
- Is this something that he can eventually outgrow?
- Can my son's liver repair itself and begin producing the missing enzyme?
- How might primary hyperoxaluria type 2 be treated?
- Is there any chance that my son will lead a full life, or will he develop end stage renal disease before he has a chance to get old and gray?
- What is the long-term outlook for people with primary hyperoxaluria type 2?
There is no evidence that this can happen. Researchers have identified more than a dozen GRHPR mutations that cause type 2 primary hyperoxaluria. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme (which is found primarily in the liver, with small amounts in the kidney) or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and it is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria, which include kidney stones, kidney damage or failure, and injury to other tissues and organs.
While to date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2, this may be a possible form of treatment in the future, in particular because there is more enzyme present in the liver than in other tissues. Other potential treatments may include liver cell transplantation and recombinant gene therapy to replace the missing enzyme. When and if these therapies will become available is unknown.
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.
- GRHPR. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/gene/GRHPR. Accessed 1/2/2013.
- Rumsby G. Primary Hyperoxaluria Type 2. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK2692/. Accessed 1/2/2013.
- Shekarriz B, Stoller ML. Hyperoxaluria. Medscape Reference. March 2011; http://emedicine.medscape.com/article/444683-overview. 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.
- Marangella M, Petrarulo M, Cosseddu D. End-Stage Renal Failure in Primary Hyperoxaluria Type 2. N Engl J Med. 1994; http://www.nejm.org/doi/full/10.1056/NEJM199406093302318. Accessed 1/2/2013.