Cystinuria

Important
It is possible that the main title of the report Cystinuriais not the name you expected.

Synonyms

Cistinuria
Cystine-Lysine-Arginine-Ornithinuria
Cystinuria with Dibasic Aminoaciduria

Disorder Subdivisions

Cystinuria, Type I
Cystinuria, Type II
Cystinuria, Type III
Hypercystinuria

General Discussion

Cystinuria is an inherited metabolic disorder characterized by the abnormal movement (transport) in the intestines and kidneys, of certain organic chemical compounds (amino acids). These include cystine, lysine, arginine, and ornithine. Excessive amounts of undissolved cystine in the urine (cystinuria) cause the formation of stones (calculi) in the kidney, bladder, and/or ureter.

Four subtypes of Cystinuria are recognized. In Type I Cystinuria, there is a defect in the active transport of cystine and the amino acids (dibasic) lysine, arginine, and ornithine in the kidneys and small intestine. People who are carriers of the gene for this type of the disorder generally have no symptoms. In Type II Cystinuria, cystine and lysine transport is severely impaired in the kidneys and only somewhat impaired in the intestines. In Type III Cystinuria, kidney transport of cystine and lysine is defective; intestinal transport is normal. People who are carriers of the gene for this variety of the disease typically have slightly elevated levels of cystine and lysine in the urine. In Hypercystinuria, there is generally a moderate elevation of cystine in the urine; intestinal absorption of cystine and the dibasic amino acids is normal.

Resources

Cystinuria Support Network
21001 NE 36th Street
Sammamish
WA
98074
Tel: (425)868-2996
Fax: (425)897-0675
cystinuria@aol.com
http://www.cystinuria.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville
MD
20852
USA
Tel: (301)881-3052
Fax: (301)881-0898
800: (800)638-8299
helpline@kideyfund.org
http://www.kidneyfund.org

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

Pak, Charles Y.C., M.D.
University of Texas South Western Medical Center
5323 Harry Hines Blvd.
Dallas
TX
7a5235
Tel: (214)688-3111International Cystinuria Foundation Incorporated
712 Great Plains Court
Fort Collins
CO
80526
Tel: (970)204-0031
Matthew.Lewis@colostate.edu
http://www.cystinuria.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 11/17/2008
Copyright 1986, 1987, 1988, 1990, 1991, 1993, 1999, 2003, 2007, 2008 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: November 17, 2008

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