Primary hyperoxaluria type 2

What causes primary hyperoxaluria type 2?

Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and 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 type 2.

Last updated on 05-01-20

How is primary hyperoxaluria type 2 inherited?

Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Last updated on 05-01-20

Is this something that he can eventually outgrow?

Unfortunately, no. Primary hyperoxaluria type 2 is an inherited condition caused by a genetic mutation. The change (mutation) in the gene is present from the time a person is conceived and will remain with them throughout their entire life. Over time, the health of a person with primary hyperoxaluria type 2 is likely to deteriorate. At this time, there is no cure and treatment is limited.

Last updated on 05-01-20

Can my son's liver repair itself and begin producing the missing enzyme?

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.

Last updated on 05-01-20

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?

Patients with primary forms of hyperoxaluria may eventually lose kidney function, depending on the severity of their disease, the stage of the disease when they are diagnosed and how well they respond to treatment. Your son's healthcare providers are best equipped to determine his current state of health and his long-term prognosis.

Last updated on 05-01-20

What is the long-term outlook for people with primary hyperoxaluria type 2?

While development of end-stage renal disease (ESRD) may be less common (and later occurring) in people with primary hyperoxaluria type 2 than in those with type 1, chronic and terminal renal insufficiency have been described. Prognosis depends on early treatment and management of hyperoxaluria and associated renal deterioration. Patients who develop ESRD and undergo kidney transplantation seem to carry a high risk of disease recurrence.

Last updated on 05-01-20

How might primary hyperoxaluria type 2 be treated?

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.

Last updated on 05-01-20

Patient Registry

RDCRN - Rare Kidney Stone Consortium

The Rare Kidney Stone Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with primary hyperoxaluria, cystinuria, dihydroxyadeninuria, and Dent's disease through research. The Rare Kidney Stone Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Last updated on 04-27-20

Name: Oxalosis and Hyperoxaluria Foundation (OHF) 579 Albany Post Road
New Paltz, NY, 12561, United States
Phone: 212-777-0470 Toll Free: 1-800-OHF-8699 Email: info@ohf.org Url: http://ohf.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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