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?
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
Cystinuria
Cystinosis
Cystothioninuria
Homocysteinuria
Kidney