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A 7-year-old girl presented with polyuria and developmental delay. She had previously been diagnosed with secondary Fanconi syndrome and cystinosis, at the age of 4 years, but her parents did not comply with cysteamine treatment. Physical examination revealed severe growth failure and genu valgum. Venous blood gas analysis indicated metabolic acidosis. Urine analysis indicated glucosuria and proteinuria, with a urine pH of 5.5. Slit-lamp examination showed moderate corneal oedema and multiple crystal deposits in both eyes (figure 1). The diagnosis was …
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