Nephropathic cystinosis

Pediatr Rev. 1997 Sep;18(9):302-4. doi: 10.1542/pir.18-9-302.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / diagnosis
  • Acidosis, Renal Tubular / physiopathology
  • Acidosis, Renal Tubular / therapy
  • Cystinosis / diagnosis*
  • Cystinosis / physiopathology
  • Cystinosis / therapy*
  • Diagnosis, Differential
  • Humans
  • Infant
  • Kidney Function Tests
  • Kidney Transplantation
  • Male
  • Prognosis
  • Urinalysis