Cystinosis Follow-up

  • Author: Ewa Elenberg, MD; Chief Editor: Craig B Langman, MD   more...
 
Updated: Nov 22, 2011
 

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.
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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.
    • 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.
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Inpatient & Outpatient Medications

  • A typical patient with cystinosis takes 2-11 medications daily. Most severely affected patients are treated with the following agents:
    • Cysteamine (oral form, ophthalmic drops - investigational)
    • Sodium chloride
    • Sodium bicarbonate
    • Potassium chloride
    • Phosphate supplements
    • Prokinetic agents and/or H2 blockers and/or dyspeptic agents
    • Vitamin D
    • Indomethacin
    • Growth hormone
    • Thyroid compounds
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Complications

  • 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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Prognosis

  • 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).[4]
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Patient Education

  • 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.
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Contributor Information and Disclosures
Author

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

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Howard Trachtman, MD  Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine

Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and 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, Children's Memorial Hospital

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

Disclosure: NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

References

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  2. [Guideline] Scottish Intercollegiate Guidelines Network (SIGN). Diagnosis and management of chronic kidney disease. A national clinical guideline. Edinburgh (Scotland): Scottish Intercollegiate Guidelines Network (SIGN); 2008. [Full Text].

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  25. Swinford RD, Elenberg E, Ingelfinger JR. Persistent renal disease. In: Nutritrition in Pediatrics: Basic Science and Clinical Applications. Hamilton, Ontario: BC Decker; 1996:493-515.

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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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