Cystinosis Article Library
Research and Resource Articles Organized by Systems and Subjects

Systems:

Cystinosis Overview:
2002 New England Journal of Medicine: Cystinosis
Dr. William Gahl, Dr. Jess Thoene, and Dr. Jerry Schneider

Circulatory Systems:
Pumping and channeling blood to and from the body and lungs with heart, blood, and blood vessels.

Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up
BMC Nephrology (Jan-2009)

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report
JMCR (Jan-2009)

Digestive System:
Digestion and processing food with salivary glands, esophagus, stomach, liver, gallbladder, pancreas, intestines, rectum, and anus.

Pharmacokinetics of cysteamine bitartrate following gastrointestinal infustion
British Journal of Clinical Pharmacology (2006); Fidler, Barshop, Gangoiti, Martin, Schneider, Dohil

Feeding problems in cystinosis
Pediatric Nephrology (1998); Elenberg, Norling, Kleinman, Ingelfinger

Understanding Intestinal Cysteamine Bitartrate Absorption
Journal of Pediatrics (June 2006); Dohil, Fidler, Barshop, Gangoiti, Deutsch, Martin, Schneider

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy
Medicine (Baltimore) (May 2005); Sonies, Almajid, Kleta, Bernardini, Gahl

Endocrine System:
Communication within the body using hormones made by endocrine glands such as the hypothalamus, pituitary or pituitary gland, pineal body or pineal gland, thyroid, parathyroid and adrenals, i.e., adrenal glands.

Growth retardation in children with cystinosis
Minerva Pediatr (June 2010); Besouw, Levtchenko

Excretory System:
Kidneys, ureters, bladder and urethra involved in fluid balance, electrolyte balance, and excretion of urine.

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters
Cell Tissue Res (Sept 2009); Wilmer, Saleem, Masereeuw, Ni, van der Velden, Russel, Mathieson, Monnens, van den Heuvel, Levtchenko

Integumentary System:
Skin, hair, and nails.

Lymphatic System:
Structures involved in the transfer of lymph between tissues and the blood stream, the lymph and the nodes and vessels that transport it including the Immune system: defending againsts disease-causing agents with leukocytes , tonsils, adenoids, kin, thymus, and spleen.

High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation
J Clin Pathol (2005); Olcay, Erdemli, Kesimer, Buyukasic, Okur, Kalkanoglu, Coskun, Altay

Muscular Systems:
Movement with muscles.

Nervous System:
Collecting, transferring and processing information with brain, spinal cord, peripheral nerves, and nerves.

Cystine accumulation in the CNS results in severe age-related memory deficits
Neurobiology of Aging (2007); Maurice, Hippert, Serratrice, Dubois, Jacquet, Antignac, Kremer, Kalatzis

Early Intervention Trial for Visual Processing Deficit in Cystinosis
Doris Trauner (Dec 2008)

Long-term tracking of nuerological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report
Journal of Medical Case Reports (2008); Muller, Baumeier, Ringelstein, Husstedt

Idiopathic intracranial hypertension in cystinosis
J Pediat (Nov 2004); Dogulu, Tsilou, Rubin, Fitzgibbon, Kaiser-Kupper, Rennert, Gahl

Reproductive System:
The sex organs, such as ovaries, fallopian tubes, uterus, vagina, mammary glands, testes, vas deferens, seminal vesicles, prostrate, and penis.

Pituitary-Testicular Function in Nephropathic Cystinosis
Annals of Internal Medicine (Oct 1993); Chik, Friedman, Merriam, Gahl

Respiratory System:
The organs used for breathing, the pharynx, larynx, trachea, bronchi, lungs, and diaphragm.

Pulmonary Dysfunction in Adults with Nephropathic Cystinosis
Chestjournal (Feb 2001); Anikster, Lacbawan, Brantly, Gochuico, Avila, Travis, Gahl

Pulmonary dysfunction in adults with nephropathic cystinosis
Chestjournal (Feb 2001); Anikster, Lacbawan, Brantly, Gochuico, Avila, Travis, Gahl

Skeletal System:
Structural support and protection with bones, cartilage, ligaments, and tendons.


Subjects:

Adults
Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy
New England Journal of Medicine (Aug 2007); Gahl, Balog, Kleta

Clinical Practice Guidelines

College

Cystagon
Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion
British Journal of Clinical Pharmacology (2006); Fidler, Barshop, Gangoiti, Deutsch, Martin, Schneider, Dohil

Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis
(Feb 2009); Dr. Rachel Knott, Dr. Graeme Kay, and Professor Donald Cairns

A Deeper Look Into Cysteamine Absorption For The Treatement Of Cystinosis
Journal of Pediatrics (June 2006); Robert Kleta, MD, PhD

Understanding Intestinal Cysteamine Bitartrate Absorption
Journal of Pediatrics (June 2006); Dohil, Fidler, Barshop, Gangoiti, Deutsch, Martin, Schneider

Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy
Annals of Internal Medicine (2007); Gahl, Balog, Kleta

Raptor Pharmaceutical Corp. Announces Publication of Results from Phase 2a Trial of DR Cysteamine for Treatment of Cystinosis
Raptor Pharmaceutical Corp. (Jan 2010)

Treatment of YAC128 mice and their wild-type littermates with cystamine does not lead to its accumulation in plasma or brain: implications for the treatment of Huntington disease
Journal of Neurochemistry (2005); Pinter, Van Raamsdonk, Leavitt, Hayden, Jeitner, Thaler, Krasnikov, Cooper

Dental
Craniofacial and dental findings in cystinosis
National Institutes of Health, Bethesda, MD (Mar 2010); Bassim, Gautam, Domingo, Balog, Guadagnini, Gahl, Hart

Genetics
Adult Cystinosis: Electron Microscopy in the Conjunctiva
Graefe's Arch Clin Exp Opthalmol (1982); Stefani, Vogel

Identification and subcellular localization of a new cystinosis isoform
American Journal of Renal Physiology (Mar 2008); Tarranta, Petrini, Palma, Mannucci, Wilmer, De Luca, Diomedi-Camassei, Corallini, Bellomo, van den Heuvel, Levtchenko, Emma

Cystinosis
Cystinosis Gene Review (Apr 2009); Nesterova, Gahl

Renal phenotype of the cystinosis mouse model is dependent upon genetic background
Nephrology Dialysis Transplantation (2009); Nevo, Chol, Bailleux, Kalatzis, Morriset, Devuyst, Gubler, Antignacl

Development, and in vivo testing, of novel therapies for cystinosis
CRN 24-mo progress report (Nov 2007); Antignac, Kalatzis

Functional Characterization of Cystinosin - LKG
1st Progress Report (2009); Emma, Taranta

Gene Transfer May Be Preventative But Not Curative for a Lysosomal Transport Disorder
The American Society for Gene Therapy (June 2008); Hippert, Dubois, Morin, Disson, Ibanes, Jacquet, Schwendener, Antignac, Kremer, Kalatzis

Heterozygous Mutation of OPA1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production
PLoS ONE (Feb 2009); Tang, Le, Tse, Wallace, Huang

Increased Aptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results From Cysteinylation of Protein Kinase C8
Journal of the American Society of Nephrology (2006); Park, Pejovic, Kerisit, Junius, Thoene

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis
European Journal of Human Genetics (2009); Lebre, Moriniere, Dunand, Bensman, Morichon-Delvallez, Antignac

Cystinosis and Mickey Mouse
Neph Dial Transplant (2010); Medlar, Kleta

Post-Symposium Press Release - CRF
Cystinosis Research Foundation (2010); Solsby

Potential role of aptosis in development of the cystinotic phenotype
Pediatric Nephrology (Dec 2004); Park, Thoene

Study of ATP metabolism in human cystinotic proximal tubular cell and in humans with cystinosis in vivo
Progress Report of CRN Grant (Dec 2008); Levtchenko, Wilmer

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation
Blood Journal (Sept 2009); Syres, Harrison, Tadlock, Jester, Simpson, Roy, Salomon, Cherqui

The redox status of cystinotic fibroblasts
Journal of Molecular Genetics and Metabolism (2010); Vitvitsky, Witcher, Banerjee, Thoene

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters
Cell Tissue Res (Sept 2009); Wilmer, Saleem, Masereeuw, Ni, van der Velden, Russel, Mathieson, Monnens, van den Heuvel, Levtchenko

Growth Hormone
Growth Hormone in Cystinosis
Craig B. Langman

Holistic
Holistic Care and Self Help Resources

Human Development

Parenting

Psychosocial
Chronic Illness May Affect a Child's Social Development
HealthyPlace.com (June 2000); Staff Writer

erikson's psychosocial development theory
www.businessballs.com

Siblings

Spiritual

Transition

Transplant