Cystinosis Research Network

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

The history of cystinosis lessons for clinical management
Dr. Paul Goodyer, Department of Pediatrics, McGill University

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)

Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation
American Society of Nephrology (2006); Ueda, O'Brien, Rosing, Ling, Kleta, McAreavey, Bernardini, Gahl

Can Cystinosis Cause Coronary Artery Dilatation
Pediatric Cardiology (2006); Olgar, Nisli, Dindar, Omeroglu, Ertugrul

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

Cholestatic liver disease in long-term infantile nephropathic cystinosis
PubMed, U.S. National Library of Medicine, National Institutes of Health (May 2008); Cornelis, Claes, Nijs, Roskams, Lombaerts, Nevens, Cassiman

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

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.

Nephrology 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

Giant cell tranformation of podocytes: A unique histological feature associated with cystinosis
Indian Journal of Nephrology; Sharma, Gupta, Sethi, Bagga, Dinda

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