Hyperoxaluria

Common Name(s)

Hyperoxaluria

Hyperoxaluria is a condition that occurs when there is an excess amount of oxalate in the urine. Oxalate is a natural substance that is normally in the body and is also found in various foods, but having too much oxalate can be dangerous. Oxalate combines with calcium to form calcium oxalate, which makes kidney stones. The calcium oxalate can build up and cause kidney damage, kidney failure, and damage to other parts of the body. There are two main types of hyperoxaluria: primary and secondary. Primary hyperoxaluria is a genetic condition. There are two types of primary hyperoxaluria. Type 1 is caused by changes (mutations) in the AGXT gene and type two is caused by mutations in the GRHPR gene. Secondary hyperoxaluria occurs when a person gets too much oxalate from the foods that they eat. Foods that contain oxalate include berries, kiwis, figs, purple grapes, rhubarb, okra, leeks, spinach and chocolate.

If a person has symptoms of hyperoxaluria, such as kidney stones or kidney failure, the doctor will usually start by performing a physical exam. Additional tests are usually needed to find the issue. These may include getting images of the kidney (such as an x-ray or CT scan) or collecting a small piece of the kidney (kidney biopsy) as well as blood and urine tests. A high level of oxalate in the urine strongly suggests a diagnosis of hyperoxaluria. Genetic testing is needed to confirm a diagnosis of primary hyperoxaluria. Early diagnosis and treatment is very important in order to prevent severe problems, such as kidney failure. Treatment options depend on the type of hyperoxaluria a person has. Avoiding foods that are high in oxalate is usually recommended. A kidney transplant or dialysis may be needed to treat kidney failure. If your child has been diagnosed with hyperoxaluria, talk with their doctor to discuss current treatment recommendations. Support groups are good resources for support and additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperoxaluria" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

Last Updated: 19 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperoxaluria" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperoxaluria" returned 205 free, full-text research articles on human participants. First 3 results:

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
 

Author(s): Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh

Journal:

 

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent ...

Last Updated: 31 Dec 1969

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Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.
 

Author(s): Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama

Journal:

 

Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but ...

Last Updated: 31 Dec 1969

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Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
 

Author(s): Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer

Journal:

 

Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperoxaluria" returned 15 free, full-text review articles on human participants. First 3 results:

The role of intestinal oxalate transport in hyperoxaluria and the formation of kidney stones in animals and man.
 

Author(s): Jonathan M Whittamore, Marguerite Hatch

Journal: Urolithiasis. 2017 Feb;45(1):89-108.

 

The intestine exerts a considerable influence over urinary oxalate in two ways, through the absorption of dietary oxalate and by serving as an adaptive extra-renal pathway for elimination of this waste metabolite. Knowledge of the mechanisms responsible for oxalate absorption and ...

Last Updated: 31 Dec 1969

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Enteric hyperoxaluria: an important cause of end-stage kidney disease.
 

Author(s): Lama Nazzal, Sonika Puri, David S Goldfarb

Journal: Nephrol. Dial. Transplant.. 2016 Mar;31(3):375-82.

 

Hyperoxaluria is a frequent complication of inflammatory bowel diseases, ileal resection and Roux-en-Y gastric bypass and is well-known to cause nephrolithiasis and nephrocalcinosis. The associated prevalence of chronic kidney disease and end-stage kidney disease (ESKD) is less clear ...

Last Updated: 31 Dec 1969

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Primary hyperoxaluria.
 

Author(s): Víctor Lorenzo, Armando Torres, Eduardo Salido

Journal: Nefrologia. 2014 May;34(3):398-412.

 

Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. The most frequent and serious disorder is due to enzyme deficit of alanine-glyoxylate aminotransferase (PH type I) specific ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Primary Hyperoxaluria Mutation Genotyping/Phenotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 8 Aug 2018

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A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 12 Sep 2018

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Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 19 Sep 2018

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