eMedicine Specialties > Pediatrics: General Medicine > Nephrology
Cystinosis: Follow-up
Updated: Aug 31, 2009
Follow-up
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.
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.
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
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.
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.
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 or Cystinosis Foundation to become familiar with the disease, to exchange their knowledge, and to bond their children with peers who also have cystinosis.
Miscellaneous
Medicolegal Pitfalls
- Failure to consider a diagnosis of cystinosis in any young patient who presents with Fanconi syndrome, recurrent severe dehydration, or failure to thrive
Special Concerns
- Pregnancy has been successful in a patient with cystinosis.3 Couples should have a consultation with a geneticist prior to conceiving to determine the partner's phenotype. Administration of cysteamine should be stopped during pregnancy because of the drug's unknown effect on the fetus.
More on Cystinosis |
| Overview: Cystinosis |
| Differential Diagnoses & Workup: Cystinosis |
| Treatment & Medication: Cystinosis |
 Follow-up: Cystinosis |
| Multimedia: Cystinosis |
| References |
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References
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Further Reading
Keywords
cystinosis, cystine storage disease, Fanconi syndrome, infantile cystinosis, infantile nephropathic cystinosis, adolescent cystinosis, adult cystinosis, ocular cystinosis, end-stage kidney failure, cysteine, metabolic acidosis, electrolyte disturbances, renal transplantation, ocular cystinosis, polyuria, polydipsia, dehydration, normal anion gap hyperchloremic acidosis, hypophosphatemic rickets, failure to thrive, severe photophobia, corneal ulcerations, retinal blindness, delayed puberty, hypothyroidism, pancreatic disease, exocrine insufficiency, insulin-dependent diabetes mellitus, hepatosplenomegaly, nodular degenerative hyperplasia, distal vacuolar myopathy, calcifications, atrophy, pseudotumor cerebri, polydipsia, polyuria, renal tubular abnormalities
