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Editorial
. 2025 Mar 4;10(3 Suppl):S775-S778.
doi: 10.1016/j.ekir.2024.10.038. eCollection 2025 Mar.

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care

Ewa Elenberg  1
Affiliations
Editorial

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care

Ewa Elenberg. Kidney Int Rep. .
No abstract available

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Figures

Figure 1
Figure 1
The multisystemic nature of cystinosis requires a multidisciplinary approach to effectively monitor and address complications in adulthood. General or transplant nephrology teams typically act as “care quarterbacks” to coordinate complex management across specialties. Common disease manifestations, particularly in untreated and undertreated patients, are listed in Figure 1, along with specialties which may manage these conditions and suggested follow-up timing.,,, , , ,,,a aMultispecialty involvement and follow-up frequency should be tailored to individual patient needs.,,, bFollow-up at least once annually.,, cFollow-up as appropriate.,, dFollow-up at least twice annually. eCystinosis has not been shown to cause infertility in women.,,, fIncluding fertility specialists. CKD, chronic kidney disease; ENT, otolaryngology.
Figure 2
Figure 2
Early and continuous cysteamine treatment is essential to prevent or delay complications in patients with cystinosis. (a) Select patient outcomes with early and long-term oral cysteamine therapy.,, , ,, (b) Select contributing factors to medication nonadherence in patients with cystinosis.,, aEarly/prompt cysteamine initiation was defined as before 5 years of age. bLong-term/adequate treatment was defined as receiving cysteamine for ≥8 years. cFanconi syndrome was attenuated with cysteamine initiation within 2 months of birth after identification of cystinosis owing to an affected sibling or newborn screening. dNeuromuscular disorders included myopathy, dysphagia, paresis, cerebrovascular accident, mental function deterioration, and seizures. eStarting therapy after the age of 5 years still delayed hypothyroidism and diabetes when compared with untreated patients. fPrompt cysteamine treatment was defined as before 1.5 years of age. gThe target granulocyte level is < 1.9 nmol ½ cystine/mg protein, and the target mixed leukocyte level is < 1.0 nmol ½ cystine/mg protein. Tests are not interchangeable., hStarting therapy after 5 years of age still improved life expectancy when compared with untreated patients. iPulmonary insufficiency, swallowing dysfunction, and aspiration cause significant morbidity and mortality in adults with cystinosis., QOL, quality of life; WBC, white blood cell.
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References

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