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Cystinosis Post-Transplant Cysteamine — ESENeph MCQ

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HardTransplantationCystinosis Post-Transplant CysteamineESENeph

A 30-year-old woman with known Fanconi syndrome from Cystinosis (infantile nephropathic form) has CKD G5 requiring transplantation. She is on Cysteamine. After transplant, should Cysteamine be continued?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: C — Yes – Cysteamine must be continued lifelong because Cystinosis is a systemic lysosomal storage disease; the transplanted kidney does not develop cystine accumulation but other organs (eyes, thyroid, muscles, CNS) continue to be affected

Cystinosis is a systemic lysosomal storage disease (CTNS gene mutation) causing intracellular cystine accumulation in all tissues. While kidney transplantation cures the renal manifestation (the donor kidney has normal CTNS and does not accumulate cystine), the systemic disease continues. Without ongoing Cysteamine (which depletes intracellular cystine), patients develop hypothyroidism, myopathy, CNS involvement, retinal damage, diabetes, and other complications. Lifelong Cysteamine is mandatory regardless of transplant status.

Reference: NICE – Cystinosis; Nesterova and Bhatt 2020 – Cystinosis Review