Primary Hyperoxaluria

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • Oxalosis
  • PH

Disorder Subdivisions

  • None

General Discussion

Summary
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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

Oxalosis and Hyperoxaluria Foundation
201 East 19th Street
Suite 12E
New York, NY 10003
USA
Tel: (212)777-0470
Fax: (212)777-0471
Tel: (800)643-8699
Email: execdirector@ohf.org
Internet: http://www.ohf.org/

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Internet: http://www.kidney.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

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: rarekidneystones@mayo.edu
Internet: 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".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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 orphan@rarediseases.org

Last Updated:  10/9/2014
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