Cystinosis
Important
It is possible that the main title of the report Cystinosis is not the name you expected.
Summary
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.
Introduction
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)
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
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.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
Cystinosis Foundation, Inc.
58 Miramonte Drive
Moraga, CA 94556
Tel: (925)631-1588
Tel: (888)631-1588
Email: jean.cystinosis@sbcglobal.net
Internet: http://www.cystinosisfoundation.org
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162
Email: nkudic@info.niddk.nih.gov
Internet: http://www.kidney.niddk.nih.gov/
Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
USA
Tel: (847)735-0471
Fax: (847)235-2773
Tel: (866)276-3669
Email: info@cystinosis.org
Internet: http://www.cystinosis.org
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
Cystinosis Research Foundation
18802 Bardeen Avenue
Irvine, CA 92612
Tel: (949)223-7610
Fax: (949)756-5955
Email: info@natialieswish.org
Internet: http://www.cystinosisresearch.org
Cystinosis Foundtion UK
174 Corwen Road
Tilehurst
Reading, RG30 4TA
United Kingdom
Tel: 00441189414232
Fax: 00441189414232
Internet: http://www.cystinosis.org.uk/
It is possible that the main title of the report Cystinosis is not the name you expected.
Disorder Subdivisions
- infantile nephropathic cystinosis
- intermediate cystinosis
- non-nephropathic cystinosis
General Discussion
Summary
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.
Introduction
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.
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
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.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
Cystinosis Foundation, Inc.
58 Miramonte Drive
Moraga, CA 94556
Tel: (925)631-1588
Tel: (888)631-1588
Email: jean.cystinosis@sbcglobal.net
Internet: http://www.cystinosisfoundation.org
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162
Email: nkudic@info.niddk.nih.gov
Internet: http://www.kidney.niddk.nih.gov/
Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
USA
Tel: (847)735-0471
Fax: (847)235-2773
Tel: (866)276-3669
Email: info@cystinosis.org
Internet: http://www.cystinosis.org
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
Cystinosis Research Foundation
18802 Bardeen Avenue
Irvine, CA 92612
Tel: (949)223-7610
Fax: (949)756-5955
Email: info@natialieswish.org
Internet: http://www.cystinosisresearch.org
Cystinosis Foundtion UK
174 Corwen Road
Tilehurst
Reading, RG30 4TA
United Kingdom
Tel: 00441189414232
Fax: 00441189414232
Internet: http://www.cystinosis.org.uk/