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• 23:46, 17 March 2026 Ostermayer talk contribs created page Cystinosis (Created page with "Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the '''CTNS''' gene, resulting in accumulation of the amino acid cystine within lysosomes of all cells. It is the '''most common inherited cause of Fanconi syndrome''' in children.<ref name="StatPearls">Cystinosis. ''StatPearls''. 2024. PMID: 39548762</ref> Emergency physicians encounter cystinosis patients presenting with '''severe dehydration''', '''electrolyte crises''' (hyp...")