National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Cystinosis is not the name you expected.
- infantile nephropathic cystinosis
- intermediate cystinosis
- non-nephropathic cystinosis
Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, cystinosis is broken down into three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis. The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another. Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment is critical in slowing the development and progression of symptoms associated with cystinosis. The kidneys and eyes are the two organs most often affected. Individuals with nephropathic or intermediate cystinosis ultimately require a kidney transplant. Non-nephropathic cystinosis only affects the corneas of the eyes. Cystinosis is caused by mutations of the CTNS gene and is inherited as an autosomal recessive disease.
Cystinosis was first described in the medical literature in 1903 by Abderhalden. Cystinosis is classified as a lysosomal storage disorder. Lysosomes are membrane bound compartments within cells that break down certain nutrients such as fats, proteins and carbohydrates. Lysosomes are the primary digestive unit within cells. Some enzymes within lysosomes break down (metabolize) these nutrients, while other enzymes transport the leftover metabolic products (such as cystine) out of the lysosome. The lack of such a specific transporter causes cystine to accumulate in lysosomes in cells throughout the body. Cystine forms crystals (crystallizes) in many types of cells and slowly damages affected organs.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Vaincre Les Maladies Lysosomales
2 Ter Avenue
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Cystinosis Foundation, Inc.
58 Miramonte Drive
Moraga, CA 94556
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Cystinosis Research Foundation
18802 Bardeen Avenue
Irvine, CA 92612
Cystinosis Foundtion UK
174 Corwen Road
Reading, RG30 4TA
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 email@example.com
Last Updated: 11/5/2012
Copyright 1986, 1987, 1988, 1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999, 2007, 2011 National Organization for Rare Disorders, Inc.