21. Entrez PubMed Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

22. GeneReviews: Cystinosis Your browser does not support HTML frames so you must view cystinosis in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=ctns

23. Cornea & External Diseases-Cystinosis cystinosis. Autosomal recessive metabolic disorder that causes cystine crystal deposition in multiple organs. Clinical features. Symptoms http://dro.hs.columbia.edu/cystinosis.htm

Oculoplastics Infectious Non Infectious Trauma ... Case Reviews Non Infectious Cystinosis Autosomal recessive metabolic disorder that causes cystine crystal deposition in multiple organs. Clinical features: Symptoms: Glare, phophobia and mild decrease in vision as the deposits may accumulate progressively throughout the cornea and involve visual axis Decreased corneal sensation Signs: Needle shaped, refractile, polychromatic corneal crystal deposits May involve conjunctiva and iris Lenticular or retinal deposits may occur in a more severe case Management: Treat the systemic disease. Topical cysteamine drops may decrease the crystals accumulation rate. Penetrating keratoplasty may be considered in severe cases.

24. BBC - Health - Conditions - Cystinosis A guide to cystinosis and its symptoms. cystinosis is a rare, inherited disease estimated to affect about 2000 people around the world (although its http://www.bbc.co.uk/health/conditions/cystinosis1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Cystinosis Dr Trisha Macnair Cystinosis is a rare, inherited disease estimated to affect about 2,000 people around the world (although its thought that many milder cases may go undiagnosed). In this article Parents are unaware that they carry a genetic abnormality Three types of cystinosis Treatment targets symptoms as well as cause In cystinosis an amino acid called cystine accumulates in the cells, causing damage to organs such as the kidney, eye, muscle, pancreas and brain. Cystine is made by cells during metabolism. Normally the amino acid is carried out of the cell but in cystinosis the cystine cannot be transported out. Instead it builds up to 100 times the normal level inside a structure in the cell called the lysosome. Here it forms crystals which eventually destroy the cell. Parents are unaware that they carry a genetic abnormality Three types of cystinosis There are three types of cystinosis: Infantile cystinosis (also known as nephropathic cystinosis): The baby may appear normal at birth but problems arise with the first year or two of life.

25. Cystinosis Three variants of cystinosis have been identified cystinosis chronic renal failure (CRF) leading to end-stage renal failure http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_cystinosis.asp

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Cystinosis"; var teaserText = "Impaired efflux of cystine across lysosomal membranes results in intralysosomal accumulation of free cystine."; Cystinosis Metabolic defect: impaired efflux of cystine Other transport/trafficking diseases: mucolipidosis IV infantile sialic acid storage Salla Current page: Cystinosis Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I

26. Indications - Cystinosis cystinosis belongs to the group of disorders known as inborn errors of metabolism. cystinosis is a disease affecting the metabolism of cystine. http://www.orphan-europe.com/1038817007.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... Congress News Orphan Europe (UK) Ltd. Contact What is cystinosis ? Cystinosis belongs to the group of disorders known as inborn errors of metabolism. Metabolism is the word used to describe the chemical reactions which take place in the body. There are many metabolic disorders and all have different features depending on which process is affected. Cystinosis is a disease affecting the metabolism of cystine. Cystine is an amino acid. Amino acids are organic substances which when linked together form proteins which are major constituents of cells. Their breakdown takes place in special structures within body cells called lysosomes. Cystinosis occurs when the transport system of cystine out of the lysosomes fails, thus allowing it to accumulate within the cells. Cells loaded with cystine cannot work normally. The major organs that are usually first affected are the kidney and eyes. What are the symptoms?

27. Cystinosis cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. http://www.bchealthguide.org/kbase/nord/nord59.htm

var hwPrint=1;var hwDocHWID="nord59";var hwDocTitle="Cystinosis";var hwRank="1";var hwSectionHWID="nord59-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Cystinosis Important It is possible that the main title of the report Cystinosis 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 Cystine Storage Disease Fanconi II Lignac-Fanconi Syndrome Disorder Subdivisions Infantile Cystinosis Juvenile Cystinosis Nephropathic Cystinosis Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome de Toni-Fanconi Syndrome Intermediate Cystinosis Dwarfism with Rickets Adolescent Cystinosis Lignac-Debre-Fanconi Syndrome Benign Cystinosis Infantile Fanconi Syndrome with Cystinosis Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome Abderhalden-Kaufmann-Lignac Syndrome Adult Cystinosis General Discussion Cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. Cystine is an amino acid found in many different proteins in the body. Lysosomes, which are membrane bound particles within cells, aid in intracellular digestive function. Cystinosis is characterized by the accumulation of cystine in tissues throughout the body, which can cause certain organs to malfunction. Three distinct forms of Cystinosis are recognized. Infantile Nephropathic Cystinosis is the most severe form of the disease. Symptoms, including abnormal sensitivity to light and loss of color in the retina of the eyes, can appear as early as 6 to 12 months of age. If left untreated, this form of the disease may lead to kidney failure by 10 years of age. In people with Intermediate Cystinosis or Juvenile (Adolescent) Cystinosis, kidney and eye symptoms typically become apparent during the teenage years or early adulthood. In Benign or Adult Cystinosis, crystalline cystine accumulates primarily in the cornea of the eyes.

28. Cystinosis Definition - Medical Dictionary Definitions Of Popular Medical Terms Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=21935

29. UNTSHC Clinic Digital Library cystinosis Access document. Online Mendelian Inheritance in Man Homepage. cystinosis, Nephropathic Access document; cystinosis, Late Onset Juvenile or http://unthsc-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/membran

Clinical Resources by Topic: Metabolic Disorders Cystinosis Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Cystinosis Patient/Family Resources Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents Lewis Library subscription INFO Chapter 344. Inherited Defects of Membrane Transport Introduction: Access document Further Reading: Access document Brenner and Rector's The Kidney 7th Ed.-2004 (MD Consult): Table of contents Lewis Library subscription INFO Chapter 36 - Inherited Disorders of the Renal Tubule: Access document Introduction: Access document Inherited Disorders Associated with Generalized Dysfunction of the Proximal Tubule (Renal Fanconi Syndrome): Access document Clinical Presentation: Access document Cystinosis: Access document Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents Lewis Library subscription INFO Part V - Host Defense and its Disorders: Access document Chapter 49 - Lysosomal Storage Diseases: Perspectives and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype-Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy:

30. EyeOrbit - Cystinosis , 4 yo girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency. Keywords, cystinosis, corneal......cystinosis. http://www.eyeorbit.org/eyeorbitgallery/details.php?image_id=182

31. Clinical Trial: Kidney Transplantation In Patients With Cystinosis cystinosis is a rare disease affecting children that causes growth Patients 7 years of age and older with cystinosis who are candidates for a kidney http://www.clinicaltrials.gov/ct/gui/show/NCT00074516

Home Search Browse Resources ... About Kidney Transplantation in Patients with Cystinosis This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) July 7, 2005 Sponsored by: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will test the effectiveness of a combination of anti-rejection medicines in preventing complications typically seen in cystinosis patients undergoing kidney transplants. Cystinosis is a rare disease affecting children that causes growth retardation and kidney failure. Kidney transplant is the standard treatment for kidney failure in these patients, followed by immunosuppression to prevent organ rejection. The standard drug regimen for immunosuppression includes steroids, which can lead to other serious complications. This study will look at combination therapy that does not include steroids. Patients 7 years of age and older with cystinosis who are candidates for a kidney transplant at the National Institutes of Health Clinical Center may be eligible for this 5-year study. Candidates will be screened with a medical history, physical examination, and blood tests.

32. Clinical Trial: Cysteamine Eye Drops To Treat Corneal Crystals In Cystinosis cystinosis is an inherited disease that results in poor growth and Patients enrolled in a NIH study on cystinosis are receiving the drug cysteamine. http://www.clinicaltrials.gov/ct/gui/show/NCT00001213

Home Search Browse Resources ... About Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) April 14, 2005 Sponsored by: National Eye Institute (NEI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will continue to evaluate the long term safety and effectiveness of cysteamine eye drops for treating cystine crystals in the corneas of patients with cystinosis. These drops are not sold commercially and are available only through this study. New patients may enroll in the study to obtain them. Cystinosis is an inherited disease that results in poor growth and kidney disease, among other things. The damage to the kidneys and other organs is thought to be due to accumulation of cystine inside the cells of various body tissues. This chemical also accumulates in the cornea-the covering of the eye over the pupil and iris. After 10 to 20 years, the corneas of some patients become so packed with crystals that the surfaces may become irregular, occasionally causing small, painful breaks. Patients enrolled in a NIH study on cystinosis are receiving the drug cysteamine. Taken by mouth, this drug reduces cystine in some tissues, but not in the cornea, perhaps because it does not reach the corneal cells. The current study was begun to test whether cysteamine eye drops could prevent or reduce corneal cystine crystals in these patients. The drops have been very effective in removing crystals and reducing pain in patients who take the medication as directed. Patients who do not take the medication as prescribed do not benefit.

33. Kidney Resource Page Patents for cystinosis. As this site grows we are adding links specific to cystinosis. cystinosis Presentations. Frequently asked questions for cystinosis http://links.nephron.com/diseases_categories/other_conditions/cystinosis

Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL AGE yrs W B F M MDRD GFR: mL/min/ 1.73 m LINKS HOME CKD ANEMIA VASC CALC ... FEATURES Recent articles about Cystinosis Tubulointerstitial nephritis and fanconi syndrome in primary biliary cirrhosis. Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemia. Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemia. Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis. ... An unusual ocular manifestation in Fanconi anemia: congenital glaucoma. Pubmed Central - Open Access Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up.

34. Healthfinder® - Cystinosis Carefully selected government and nonprofit health information on cystinosis. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=217

35. Healthfinder® — Cystinosis Foundation The cystinosis Foundation is a nonprofit organization formed with the objectives of raising awareness among the general public and the medical community, http://www.healthfinder.gov/orgs/HR2199.htm

Help Advanced Search News Library ... Organizations Cystinosis Foundation Organization URL(s) cystinosis@ucsd.edu www.cystinosisfoundation.org/ Other Contact Information 2516 Stockbridge Drive Oakland, CA 94611 800-392-8458 (Voice - Toll-free) 209-222-7997 (Voice) Description The Cystinosis Foundation is a nonprofit organization formed with the objectives of raising awareness among the general public and the medical community, as well as raising funds for research into the causes of this rare metabolic disease. Cystinosis, a genetic disorder, afflicts from 200 to 300 children in the United States. The Foundation will respond to inquiries from parents of victims and other concerned individuals. The Foundation is establishing a national directory of information from cystinosis-affected families which will be made available to doctors working in research. The Foundation serves as a support group to families afflicted with cystinosis. The Foundation is supported through donations from individuals and companies. Online Resources Facts About Cystinosis http://www.cystinosisfoundation.org/brochure2.html

36. EP Associations - The Cystinosis Foundation (CF) cystinosis produces a buildup of cystine crystals in tissues throughout the body. While the ultimate goal of CF is to find a cure for cystinosis, http://www.eparent.com/resources/associations/cystinosisFoundation.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Bookstore Archived Articles Publisher’s Message ... Children’s Page Search Eparent: Associations: The Cystinosis Foundation The Cystinosis Foundation (CF) is an all-volunteer, nonprofit organization dedicated to providing services to anyone dealing with cystinosis. Via a multifaceted network of supports, including both local and national conferences, education/awareness activities, fund-raising for research, and other efforts, CF members have at their disposal numerous sources of assistance for improving the quality of life of their family member with this disorder. What is cystinosis? It is estimated that 2,000 individuals worldwide have cystinosis, though exact numbers are difficult to obtain because the disease is often undiagnosed. With early detection and proper treatment, people with cystinosis can avoid serious health complications, such as kidney failure and neurological damage. There are three types of cystinosis, which can appear at any age: infantile nephropathic (usually from 6-8 months after birth), late-onset nephropathic (usually between ages 12 and 13), and benign non-nephropathic (usually in adulthood).

37. Cystinosis cystinosis Foundation 17 Lake Ave Piedmont, CA 94611 Phone (510) 6016940 cystinosis Central, University of California, San Diego, Department of http://www.kumc.edu/gec/support/cystinos.html

Cystinosis Cystinosis Foundation 17 Lake Ave Piedmont, CA 94611 Phone: (510) 601-6940 Online information: Cystinosis Central , University of California, San Diego, Department of Pediatrics, Division of Metabolic Disease Also See: National organizations with information on genetic conditions or birth defects - variety of resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

38. UpToDate Cystinosis INTRODUCTION — cystinosis is a metabolic disease characterized by an accumulation of Three forms of cystinosis have been described the infantile http://patients.uptodate.com/topic.asp?file=pedineph/8672

39. Cystinosis International network. All - volunteer, non - profit organization dedicated to providing services for those http://my.webmd.com/hw/health_guide_atoz/shc29cys.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Cystinosis Research Network Cystinosis Cystinosis Foundation, Inc. International network. All-volunteer, non-profit organization dedicated to providing services for those suffering from cystinosis. Provides information and referrals. Parent directory and national registry. Offers conferences, newsletter, public education, listserv, web support and literature. Online e-groups and message board. WRITE: Cystinosis Fdn., Inc. 604 Vernon St. Oakland, CA 94601 CALL: 1-800-392-8458 E-MAIL: jd2hotz@qnis.net WEBSITE: http://www.cystinosisfoundation.org VERIFIED: 6/3/2004 Cystinosis Research Network Online. Founded 1996.

40. Cystinosis cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts http://my.webmd.com/hw/health_guide_atoz/nord59.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Cystinosis Important It is possible that the main title of the report Cystinosis 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 Cystine Storage Disease Fanconi II Lignac-Fanconi Syndrome Disorder Subdivisions Infantile Cystinosis Juvenile Cystinosis Nephropathic Cystinosis Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome de Toni-Fanconi Syndrome Intermediate Cystinosis Dwarfism with Rickets Adolescent Cystinosis Lignac-Debre-Fanconi Syndrome Benign Cystinosis Infantile Fanconi Syndrome with Cystinosis Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome Abderhalden-Kaufmann-Lignac Syndrome Adult Cystinosis General Discussion Cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. Cystine is an amino acid found in many different proteins in the body. Lysosomes, which are membrane bound particles within cells, aid in intracellular digestive function. Cystinosis is characterized by the accumulation of cystine in tissues throughout the body, which can cause certain organs to malfunction.

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