Cystinosis Follow-up

Updated: Aug 31, 2015
  • Author: Ewa Elenberg, MD, MEd; Chief Editor: Craig B Langman, MD  more...
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Further Outpatient Care

See the list below:

  • Most patients receive follow-up care by a pediatric nephrologist, who usually undertakes the role of primary care provider because of the complexity of problems.

  • Patients should be seen on a regular basis, depending on the age of the patient and the spectrum of multisystem involvement. The visits should be coordinated with other subspecialists involved in the care.

    • The leukocyte cystine content should be measured every 3 months, depending on the previous levels. The goal is less than 1-2nmol/half-cystine/mg cell protein .

    • Blood chemistry should be monitored initially every other week for the first month and then monthly for 6 months; when chemistry remains stable, laboratory follow-up testing can be done less frequently, every 2-3 months.

    • During the office visits, the patient should be monitored for growth and weight gain, possible electrolyte abnormalities, renal function, and for nonrenal complications of cystinosis.

    • Ophthalmic examination should be performed every year to monitor corneal crystals and to rule out idiopathic intracranial hypertension.

    • If the linear growth velocity is not improved within a year of therapy and the height remains below the third percentile, recombinant human growth hormone therapy should be considered.

    • Thyroid function should be monitored to detect hypothyroidism.


Further Inpatient Care

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  • Patients with nephropathic cystinosis may require many hospitalizations as a result of severe electrolyte imbalance during recurrent episodes of dehydration from vomiting, diarrhea, or infection. Some patients may also have severe failure to thrive, requiring total parenteral nutrition if gastric tube feedings are not tolerated.


Inpatient & Outpatient Medications

A typical patient with cystinosis takes 2-11 medications daily.

  • All patients with cystinosis require lifetime therapy with cysteamine (oral form, ophthalmic drops).

  • Patients with Fanconi syndrome require urine losses replacements, including the following:

    • Sodium replacement

    • Bicarbonate replacement

    • Potassium replacement

    • Phosphate supplements

  • In addition, the following agents are commonly used:

    • Prokinetic agents and/or dyspeptic agents

    • Vitamin D

    • Indomethacin

    • Growth hormone

    • Thyroid compounds

    • Carnitine

Patients who have renal transplants, require immunosuppressive therapy and need to continue oral cysteamine and ophthalmic drops

Late complications of cystinosis need to be treated accordingly.



See the list below:

  • Before renal transplantation, nonrenal complications of infantile cystinosis include photophobia, corneal crystals, hypothyroidism, and short stature.

  • After renal transplantation, nonrenal complications include photophobia, corneal crystals, hypothyroidism, polyneuropathy, distal myopathy, CNS abnormalities, renal stones, and diabetes mellitus. Among the more unusual complications noted in the literature are pulmonary fibrosis, nodular degenerative hyperplasia of the liver, and hearing loss.



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  • In the early 1960s, nephropathic cystinosis was considered a fatal renal disease of childhood; patients died of progressive renal failure before age 10 years. The natural history of the disease has changed dramatically since the introduction of cysteamine and renal transplantation. Patients with infantile cystinosis now survive into even the fifth decade of life. Cysteamine markedly slows the progression of renal failure.

  • The study results from a large European cohort showed improved survival of renal function and better patient and graft survival in children with nephropathic cystinosis who received renal replacement therapy compared with those who did not. The 5-year survival rate after the start of renal replacement therapy improved from 86.1% (prior to 1990) to 100% (since 2000). [6]


Patient Education

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  • Because of the chronic and rare nature of the disease, allowing the parents of patients with cystinosis full access (eg, handouts to take home, library card) to current articles on the disease is critical. Parents may also join the Cystinosis Research Network, the Cystinosis Research Foundation, or the Cystinosis Foundation to become familiar with the disease, to exchange their knowledge, and to bond their children with peers who also have cystinosis.