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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 …
Contributors CL is the main author. XL contributed to the final diagnosis and approved the final draft of the manuscript. JF and QM edited the article prior to submission. Images were contributed by JY and ZC. YJ and QF are the consultant clinicians responsible for the care of this patient and provided the details of the clinical history.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Ethics approval Beijing Children’s Hospital Ethics Committee.
Provenance and peer review Not commissioned; externally peer reviewed.
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