Your Healthcare Team

Cystinosis affects many parts of the body

That’s why you may need a team of experts to help you. Your team may include different specialists over the course of your life.1,2

Cardiologist (card-ee-OL-o-jist) — Specializes in caring for the heart and blood vessels

Endocrinologist (en-doh-krin-OL-o-jist) — Manages thyroid issues and diabetes. May prescribe growth hormone therapy for children with cystinosis

Gastroenterologist (gas-tro-en-ter-OL-o-jist) — Specializes in the stomach and intestines. Manages problems related to eating and digesting, including difficulty swallowing

Geneticist (gen-ET-i-cist) — An expert in inherited diseases who can confirm a cystinosis diagnosis through genetic testing and also perform prenatal diagnostic testing. In addition, genetic counseling helps families to determine the risk of cystinosis for other family members and assists in family planning. In pregnancies at increased risk for cystinosis, biochemical testing can evaluate prenatal cystine

Internist/general physician — Provides general medical care for children and adults

Nephrologist (neff-ROL-o-jist) — Specializes in the kidneys. For children, a pediatric nephrologist often makes the initial cystinosis diagnosis and directs medical care throughout the teenage years. As you reach adulthood, transition to an adult nephrologist may be considered

Neurologist (nyur-OL-o-jist) — Specializes in nerve and muscle problems, which usually appear in late adolescence

Ophthalmologist (off-thal-MOL-o-jist) — Specializes in the eyes, including complications with the cornea and retina

Pediatrician (pee-dee-uh-TRISH-un) — Provides general medical care for children

Transplant surgeon/transplant team — Performs transplant surgery and provides care before, during, and after surgery

Other experts — Dietitians, child-life specialists, psychologists, social workers, and behavioral therapists may also help in your care

References

  1. Cystinosis Parent Handbook, Cystinosis Research Network website. Available at https://cystinosis.org/images/research/article-library/overview/Cystinosis-Parent-Handbook-Final.pdf. Accessed August 20, 2015.
  2. Nesterova G, Gahl WA. Cystinosis: The evolution of a treatable disease. Pediatr Nephrol. 2013;28:51-59