Nephropathic cystinosis.

Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic, pathologic process-cystine accumulation. Early diagnosis and therapy are critical to optimize the prognosis.

Related Organizations

National Institutes of Health
United States
National Institute of Child Health and Human Development
United States

Keywords

Diagnosis, Differential, Male, Cystinosis, Humans, Infant, Acidosis, Renal Tubular, Urinalysis, Kidney Function Tests, Prognosis, Kidney Transplantation

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