AJKD Atlas of Renal Pathology: Cystinosis

Cystinosis is a rare autosomal recessive lysosomal transport disorder with an incidence of 1 in 100,000 to 200,000 live births. It is the most common cause of Fanconi syndrome in children and presents clinically in 3 different forms, including infantile, juvenile (late onset), and adult (benign). Children with infantile nephropathic cystinosis have early onset of polyuria, polydipsia, dehydration, and Fanconi syndrome by the first decade of life, with progressive decreases in kidney function, reaching end-stage renal disease (ESRD) by a mean age of 9 years.

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