National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Primary Hyperoxaluria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Primary hyperoxalurias (PHs) are a group of rare genetic metabolic disorders that are characterized by the accumulation of a substance known as oxalate in the kidneys and other organ systems of the body. Affected individuals lack functional levels of a specific enzyme that normally prevents the accumulation of oxalate. There are three main types of PH differentiated by the specific enzyme that is deficient. In the kidneys, excess oxalate binds with calcium to form a hard compound (calcium oxalate) that is the main component of kidney and urinary stones. Common symptoms include the formation of stones throughout the urinary tract (urolithiasis) and kidneys (nephrolithiasis) and progressively increased levels of calcium in the kidneys (nephrocalcinosis), although this last finding has not been identified in individuals with PH type III as of yet. Chronic, recurrent stone formation and the accumulation of calcium oxalate in kidney tissue can cause chronic kidney disease, which can ultimately progress to kidney failure (end stage renal disease [ESRD]). Eventually, kidney function can deteriorate to the point where oxalate begins to accumulate in other organ systems. Overall, the symptoms and severity of PH may vary greatly from one person to another. Chronic kidney disease and ESRD may already be present when a diagnosis is first made. PH is a treatable disorder and complications may be minimized with early recognition and prompt treatment.
PH type I is caused by mutations in the AGXT gene. PH type II is caused by mutations in the GRHPR gene. PH type III is caused by mutations in the HOGA gene (formerly known as the DHDPSL gene). The genetic mutations that cause PH are inherited as autosomal recessive traits.
CLIMB (Children Living with Inherited Metabolic Diseases)
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- Website: http://www.CLIMB.org.uk
Genetic and Rare Diseases (GARD) Information Center
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- Tel: (301)251-4925
- Fax: (301)251-4911
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- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
- Email: email@example.com
- Website: http://www.kidney.org
Oxalosis and Hyperoxaluria Foundation
- 201 East 19th Street
- Suite 12E
- New York, NY 10003
- Tel: (212)777-0470
- Fax: (212)777-0471
- Tel: (800)643-8699
- Email: firstname.lastname@example.org
- Website: http://www.ohf.org/
Rare Kidney Stone Consortium
- Mayo Clinic
- 200 First St., SW
- Rochester, MN 55901
- Tel: (507)266-8265
- Fax: (507)255-0770
- Tel: (800)270-4637
- Email: email@example.com
- Website: http://www.rarekidneystones.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 12/12/1969
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