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Cystinosis:     more detail

Cystinosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Cystinosis: Webster's Timeline History, 1951 - 2007 by Icon Group International, 2010-05-28 Cystinosis Cystinosis (DHEW publication no) by Joseph D Schulman, 1973 Cystinosis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005 A Parent's guide to cystinosis (NIH publication) by Stephen P Spielberg, 1981 Fanconi's Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Lorraine, PhD Lica, 2006 Gale Encyclopedia of Medicine: Fanconi's syndrome by Lorraine Lica PhD, 2002-01-01 Celebration by Margaret Spufford, 1996-04

lists with details

61. Cystinosis
    cystinosis. Back to previous level Fanconi Syndrome Search PUBMED forFanconi Syndrome All Review Therapy Diagnosis; ANEMIA, CONGENITAL  
    http://www.ohsu.edu/cliniweb/C12/C12.777.419.815.368.html

62. Poster 38 - Diagnosis And Research In Cystinosis
    POSTER NO 38. Diagnosis and Research in cystinosis. We previously characterisedthe cystinosis gene, CTNS, and identified a spectrum of pathogenic mutations.  
    http://hgm2001.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopsPoster/WorkshopPoster02/
    
    Extractions: Great Ormond Street Hospital for Children NHS Trust, Clinical Molecular Genetics, Great Ormond Street, London Institute of Child Health, University College London Medical School, Nephro-Urology Unit, 30 Guilford Street, London Imperial College Medical School, Section on Clinical Pharmacology, Hammersmith Hospital, London Nephropathic cystinosis (MIM 219800) is an autosomal recessive disorder characterised biochemically by the intracellular accumulation of cystine within lysosomes, and clinically by renal Fanconi syndrome with end-stage renal failure by 10 years of age. Two other clinical forms have been defined: juvenile (MIM 219900) and benign (MIM 219750) which differ in the age of onset of symptoms and the severity of the clinical course. We previously characterised the cystinosis gene, CTNS, and identified a spectrum of pathogenic mutations. The most common mutation was shown to be a large (57 kb) deletion encompassing exons 1-10 of CTNS. In response to clinicians and the families of cystinotic patients we have validated a CTNS mutation screening strategy, now in use at the clinical molecular genetics laboratory Great Ormond Street Hospital. 103 cystinosis patients were first screened by PCR for the presence of the common 57 kb deletion, using primers which amplify across the breakpoint region. Heterozygotes are distinguished by the production of an amplification product using primers for an intragenic marker. The results support previously published data on the frequency of this mutation among Europeans. Patients found to be heterozygous or who do not have the 57 kb deletion are then screened by SSCP in order to detect mutations in exons 1-12 of CTNS, and mutations identified by sequencing. We comment on the type and frequency of the mutations found to-date.

63. Cystinosis Chatroom Frame
    http://www.cystinosis.com/Chatroom/Chat_Frame.htm

64. Cystinosis - General Practice Notebook
    medical information from General Practice Notebook. cystinosis. cystinosisis an autosomal recessive lyosomal storage disorder resulting  
    http://www.gpnotebook.co.uk/cache/1013645317.htm
    
    Extractions: cystinosis Cystinosis is an autosomal recessive lyosomal storage disorder resulting from impaired cystine transport with a consequent intracellular cystine accumulation in many tissues. This disease is the most common cause of renal tubular Fanconi's syndrome. This disease must not be confused with cystinuria which is an autosomal recessive disorder characterised by a specific dibasic aminoaciduria, the result of a defective tubular reabsorption mechanism.

65. Health Library - Cystinosis
    cystinosis. Self Help Clearinghouse. cystinosis Foundation, Inc. Nationalnetwork.Dedicated to providing services for  
    http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29cys

66. Health Library - Cystinosis
    cystinosis. Self Help Clearinghouse. cystinosis Foundation, Inc. Nationalnetwork.Dedicated to providing services for  
    http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

67. What Is It?
    What is cystinosis. cystinosis is a Metabolic and one normal gene. The parentsnever have any signs of the disease. What causes cystinosis?  
    http://australia.cystinosis.com/what_is_it.htm
    
    Extractions: What is Cystinosis Cystinosis is a Metabolic disease characterized by an abnormal accumulation of the amino acid cystine in various organs of the body such as Kidney, Eye, Muscle, Pancreas, and Brain. Different organs are affected at different ages. Is It Inherited? The disease is inherited in a autosomal recessive fashion, meaning that each parent of a child with Cystinosis carries one defective gene and one normal gene. The parents never have any signs of the disease. What causes Cystinosis? The Cystine content of Cystinotic cells averages 50-100 times the normal value. The cause is a defect in the transport of cystine out of a cell compartment called the lysosome, in which Cystine accumulates. Because of cystine's low solubility, this amino acid forms crystals within the lysosomes of cells, and this is probably what destroys the cells. What are the Symptoms? If Cystinosis patients receive a kidney transplant and reach adult hood, then their new kidney will not be effected by the disease. However, without Cysteamine treatment they can develop complications in other organs due to the continued accumulation of Cystine throughout the body. These complications can include muscle wasting, difficulty swallowing, diabetes, hypothyroidism, and blindness. Not all older patients develop these problems, however. Can Cystinosis be treated?

68. Arch Ophthalmol -- Page Not Found
    Ultrasound Biomicroscopy of the Eye in cystinosis Author Information Nils Mungan,MD, FRCSC; Ken K. Nischal, FRCOphth; Elise Héon, MD, FRCSC; Leslie MacKeen  
    http://archopht.ama-assn.org/issues/v118n10/abs/ecs90331.html
    
    Extractions: The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

69. Cystinosis Information Page Diseases Database
    cystinosis Information Page. 2 synonyms or equivalents were found.cystinosis aka/or Cystine storage disease related topics and  
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=3382

70. Nephropathic Cystinosis
    Nephropathic cystinosis. 5.3.2001. Click here to start. Table of Contents.Nephropathic cystinosis. Nephropathic cystinosis. cystinosiserfðir.  
    http://www2.landspitali.is/hringur/fraedsluefni/slides/laeknar/vidar_1/

71. Nephropathic Cystinosis
    Next Last Index Text, Slide 1 of 45.  
    http://www2.landspitali.is/hringur/fraedsluefni/slides/laeknar/vidar_1/sld001.ht

72. Augenbefunde Als Leitsymptom Bei Cystinosis
    Translate this page  
    http://www.onjoph.com/Artikel/Mayer_Cystinosis/cystinosis.html

73. Health Library - Cystinosis
    Saint Luke's Health System eLibrary. cystinosis. Self Help Clearinghouse.cystinosis Foundation, Inc. National network  
    http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

74. Directory :: Look.com
    cystinosis (5) See Also. Sites. cystinosis Patient UK Informationfor those living in the United Kingdom concerning this disease.  
    http://www.look.com/searchroute/directorysearch.asp?p=523629

75. Dorlands Medical Dictionary
    cysteamine bitartrate, the hydrochloride salt of cysteamine, used forthe prevention of nephropathic cystinosis; administered orally.  
    http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

76. Cystinosis
    only one click … For Medical Professionals only. cystinosis,, Printthis article, a rare familial crystal deposition disease manifested  
    http://www.amershamhealth.com/medcyclopaedia/Volume III 1/cystinosis.html
    
    Extractions: *For Medical Professionals only, registration required Cystinosis, a rare familial crystal deposition disease manifested by widespread deposits of cystine crystals in the tissues of the body, specifically within cellular lysosomes. Infantile, juvenile, and adult varieties have been identified. Frequently damage to renal tubules and glomeruli results in electrolyte imbalance, cardiac failure, anaemia, rickets, and retinopathy. Cystine crystals may be deposited in bone, but the relationship of these lesions to radiolucent cystic lesions observed in bones and joints is not clear.

77. 2808: CTNS MUTATIONS IN AN ITALIAN POPULATION OF CYSTINOSIS PATIENTS.
    Program Nr 2808 CTNS MUTATIONS IN AN ITALIAN POPULATION OF cystinosis PATIENTS. Thecystinosis gene was mapped to chromosome 17p13 in 1995 and cloned in 1998.  
    http://www.faseb.org/genetics/ashg99/f2808.htm
    
    Extractions: Program Nr: 2808 CTNS MUTATIONS IN AN ITALIAN POPULATION OF CYSTINOSIS PATIENTS. R. Tenconi , S. Mason , M. Clementi , R. Dall'Amico , G. Zacchello , G. Ardissino , C. Pecoraro , A. Burlina , E. Zamorani , F. Ginevri , M. Pennesi , P. Sorino 1) Dept Ped, Clinical Genetics, Univ Padova, Padova, Italy; 2) Italian Registry of Cystinosis.

78. 1318: Revealing The Molecular Basis Of Cystinosis In Dutch Patients By Mutation
    Program Nr 1318 Revealing the molecular basis of cystinosis in Dutchpatients by mutation detection in the CTNS gene. SG Heil 1  
    http://www.faseb.org/genetics/ashg99/f1318.htm
    
    Extractions: Program Nr: 1318 Revealing the molecular basis of cystinosis in Dutch patients by mutation detection in the CTNS gene. S.G. Heil , N.M.J. Van der Put , H.G. Brunner , J.M.F. Trijbels , L.A.H. Monnens , H.J. Blom 1) Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands; 2) Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands. Nephropathic cystinosis is an inborn error of metabolism with an autosomal recessive inheritance pattern. Cystinosis is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Clinical features are renal Fanconi syndrome, failure to thrive and crystals in the eye-lens.

79. -Images In Clinical Practice
    Brief Reports. Indian Pediatrics 2003;40 2124. Infantile cystinosis. Ten patientsof nephropathic cystinosis were admitted during the period 1995-2000.  
    http://www.indianpediatrics.net/jan2003/jan-21-24.htm
    
    Extractions: Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2003;40: 21-24 Infantile Cystinosis M. Mirdehghan, A. Ahmadzadeh, M. Bana-Behbahani, Ismail Motlagh, Bashir Chomali From the Pediatric Nephrology Unit, Abuzar Children’s Medical Center, University of Medical Sciences, Ahvaz, Iran. Correspondence to: M. Mirdehghan, Director, Abuzar Pediatric Center, University of Medical Sciences, Ahvaz-Iran. E-mail: abuzarhosp-library@yahoo.com Manuscript received: July 16, 2001; Initial review completed: August 23, 2001; Revision accepted: June 26, 2001. Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement. Key words: Cystinosis, Infant.

80. NDI Terminology - Infantile Nephropathic Cystinosis
    infantile nephropathic cystinosis. DEFINITION Definition has yet tobe entered. Check back later. The definitions used in this glossary  
    http://www.ndif.org/Terms/infantile_nephropathic_cystinosis.html
    
    Extractions: The definitions used in this glossary of terminology either have been provided by the authors of the articles, or have been extracted wholly or in part, or paraphrased from the following sources: The American Medical Association Encyclopedia of Medicine , Charles B. Clayman, MD, Medical Editor, Random House, New York, 1989; Dorland's Illustrated Medical Dictionary , 28th Edition, W. B. Saunders Company, Philadelphia, 1994; The Random House Dictionary of the English Language , Unabridged Edition, 1966; Webster's Ninth New Collegiate Dictionary

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