Of the three types of cystinosis (infantile nephropathic, late onset and ocular), we will focus on the management of the most common and complex form – infantile nephropathic.
People with cystinosis are living longer, more productive lives because we’ve learned better ways to treat the disease. Much research continues to be done to improve treatment and ﬁnd a cure, so it is important to stay hopeful while preventing or slowing damage to the body. Consistent treatment from an early age is critical.
Cystinosis is a multi-systemic disease and management and treatment should be closely coordinated with your health care providers.
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Multi-Specialty UCSD Cystinosis Clinic
Kidney tubular dysfunction requires a high intake of fluids and electrolytes to prevent excessive loss of water from the body (dehydration). Sodium bicarbonate, sodium citrate, and potassium citrate may be administered to maintain the normal electrolyte balance. Phosphates and vitamin D will also help to correct the impaired uptake of phosphate into the kidneys and to prevent rickets. Carnitine may help to replace muscular carnitine deficiency.
Cysteamine Bitartrate (Cystagon®/Procysbi®)
Cysteamine is the treatment for cystinosis to reduce cystine accumulation in the cells. Cysteamine has proven effective in delaying or preventing renal failure. Cysteamine also improves growth of children with cystinosis. Cysteamine should also be given to cystinosis patients following kidney transplant to prevent the non-kidney complications of the disease. Two cysteamine treatment options are:
Cystagon prescribing information
Cystagon | Recordati Rare Diseases
Procysbi prescribing information
Horizon By Your Side is a patient support program with dedicated team members who take a personalized approach to meeting the unique needs of every patient prescribed Procysbi delayed-release capsules or delayed-release oral granules. This program includes Patient Access Liaisons (PALS) who will provide you with dedicated, one-on-one support. They work directly with you to answer non-medical, logistical questions and provide support once you have been prescribed Procysbi and you have completed enrollment. To connect with a PAL 8:00 am – 8:00 pm ET, call 1-855-888-4004.
Horizon Therapeutics has launched a program to help ensure the people living with cystinosis have access to white blood cell (WBC) cystine level tests. WBC cystine level tests measure cystine accumulation inside of white blood cells. Monitoring these levels is an important part of managing cystinosis. Please consult with a treating physician to request a WBC cysteine level collection kit, available at no cost by visiting WBCkit.com. The availability of this program is based on the cystinosis community’s feedback around the challenges of getting consistent and regular testing. Any additional questions can be answered by emailing: connect@HorizonTherapeutics.com.
You can learn more about Horizon’s commitment to the cystinosis community here.
UCSD Cystine Determination Lab
CTF – Bldg B Room 213
212 Dickinson Street
San Diego, CA 92103
Technical Contact: Bernadette Libatique, CLS, Laboratory Technician
Clinical Contact / Principal Investigator: Bruce A. Barshop, M.D., Ph.D., Professor of Pediatrics
Billing Contact: Bonnie Holmes, Laboratory Manager
Mitomed Diagnostic Laboratory at UC, Irvine – Blood Test Code for Cystinosis
Cysteamine Eye Drops (Cystaran™ and CYSTADROPS®)
Cysteamine eyedrops dissolve corneal crystals and relieve photophobia to prevent corneal ulcerations. There are now two FDA-approved options.
Cystaran (cysteamine opthalmic solution) 0.44%
Cystaran Ordering Information
Cystaran Enrollment Form
Cystaran Hotline 1-877-534-9627
Getting Started with CYSTADROPS
CYSTADROPS Patient Advocacy Liaison Program
Living with Cystinosis: Impact on the Cornea of the Eye
Resources & FAQs
“Living with Cystinosis: A Closer Look” offers information about the symptoms, impact and management of the ocular effects of cystinosis.
Kidney transplantation is an effective treatment for the kidney failure of individuals with cystinosis.
Other treatments include indomethacin, recombinant human growth hormone and thyroid hormone replacement as well as treatment of bone deformities.
The psychosocial and emotional impact of the disease on patients and families is significant. Ongoing involvement with social work and mental health services may be beneficial.
Child Mind Institute – For Families
Mental Health First Aid
Depression and Suicide Hotlines
Multi-specialty UCSD Cystinosis Clinic
The physicians and specialists at the University of California San Diego have started a multi-specialty Cystinosis Clinic, including, among other specialists, Dr. Bruce Barshop and Dr. Annette Feigenbaum (Biochemical Genetics), Dr. Nadine Benador (Nephrology), Dr. Ranjan Dohil (Gastroenterology), Dr. Doris Trauner (Neurology), Dr. Ron Newfield (Endocrinology), Dr. David Granet (Ophthalmology), and Dr. Stephanie Cherqui (Laboratory Scientist).
The clinics will be held on Monday mornings (every 3 months at present), at the UCSD/Rady Children’s Hospital Medical/Research Offices at 7910 Frost Street, San Diego.
If you are interested, please contact Denise Young, RN, at 858-576-1700 X4642, or send email to email@example.com or to firstname.lastname@example.org. We will require information ahead of time, for insurance authorization to be arranged and for arrangements for medical records to be released and forwarded.
Cystinosis Parent Handbook
Standards of Care
Pediatric to Adult Care Transitioning Guide