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Cystinosis Follow-up

  • Author: Ewa Elenberg, MD, MEd; Chief Editor: Craig B Langman, MD  more...
Updated: Aug 30, 2015

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

See the list below:

  • 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.


See the list below:

  • 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

See the list below:

  • 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.
Contributor Information and Disclosures

Ewa Elenberg, MD, MEd Associate Professor of Pediatrics, Renal Section, Texas Children's Hospital, Baylor College of Medicine

Ewa Elenberg, MD, MEd is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Adrian Spitzer, MD Clinical Professor Emeritus, Department of Pediatrics, Albert Einstein College of Medicine

Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Uri S Alon, MD Director of Bone and Mineral Disorders Clinic and Renal Research Laboratory, Children's Mercy Hospital of Kansas City; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri-Kansas City School of Medicine

Uri S Alon, MD is a member of the following medical societies: American Federation for Medical Research

Disclosure: Nothing to disclose.

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An 8-month-old male infant at the time his cystinosis is diagnosed.
The same child as in the previous image, at age 20 months, fed via gastric tube.
The same child as in the previous images, at age 3 years, fed via jejunal tube.
The same child as in the previous images, at age 4 years, on total parenteral nutrition via central line.
The same child as in the previous images, at age 9 years, off total parenteral nutrition for 1 year and tolerating oral intake.
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