infantile nephropathic cystinosis

the most common cause of Fanconi syndrome (def. 2), a type of cystinosis marked by vitamin D–resistant rickets, chronic acidosis, polyuria, and dehydration, all resulting from proximal renal tubular dysfunction, and by corneal opacities, growth failure, uremia, and chronic renal failure. Affected children formerly died before age 10, but with improved treatment, now some may live into adulthood. Called also early onset c.