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What is A 9-years-old female child presented with polyuria, polydipsia and metabolic acidosis. On slit lamp examination crystal deposits are seen in cornea. What is the diagnosis? and explain in detail?
b. Cystinosis(Ref: Nelson 20/e p 2529-2530)Features of renal tubular dysfunction like polyuria, polydipsia and metabolic acidosis, along with presence of crystal deposits in cornea on slit lamp examination of eye suggest a diagnosis of Cystinosis