Cystinosis Follow-up

Updated: Dec 05, 2020
  • Author: Ewa Elenberg, MD, MEd; Chief Editor: Craig B Langman, MD  more...
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Further Outpatient Care

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 1-2 nmol/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

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.