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.
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Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D003554:Cystinosis / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007677:Kidney Function Tests; D016030:Kidney Transplantation; D008297:Male; D011379:Prognosis; D016482:Urinalysis