Pediatric Nephrology

, Volume 4, Issue 6, pp 645–653 | Cite as

Update on nephropathic cystinosis

  • Jerry A. Schneider
  • Barrett Katz
  • Ronald B. Melles
Practical Pediatric Nephrology
Received:

Abstract

The cystine that accumulates within cystinotic lysosomes comes primarily from proteins which have been degraded within this organelle. The individual amino acids have specific transport mechanisms to exit the lysosome. The lysosomal cystine transporter is defective in all types of cystinosis. When cells from patients with nephropathic and benign cystinosis were fused, the defect was not corrected and the cystine level remained elevated. This strongly indicates that the genetic defects are allelic (i.e., on the same chromosome). Cysteamine is a weak base which enters the cystinotic lysosome and reacts with cystine forming a mixed disulfide of half-cystine and cysteamine. This mixed disulfide rapidly exits the lysosome via the transport system for cationic amino acids which is normal in cystinosis. Because of the success of renal transplantation, many cystinosis patients are alive in their twenties and even early thirties. Unfortunately, these patients have developed damage to other organs including thyroid, eye, central nervous system, pancreas, and muscle. Cysteamine and its analog, phosphocysteamine, are very beneficial to cystinosis patients, especially when started early in life. These drugs may prevent the need for transplantation. It is too early to know if they will prevent damage to other organs.

Key words

Cystinosis Lysosomes Transport Cysteamine Fanconi syndrome 
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Copyright information

© IPNA 1990

Authors and Affiliations

  • Jerry A. Schneider
    • 1
  • Barrett Katz
    • 2
    • 3
  • Ronald B. Melles
    • 4
  1. 1.University of California at San DiegoLa JollaUSA
  2. 2.Pacific Presbyterian Medical CenterSan FranciscoUSA
  3. 3.The Smith-Kettlewell Eye Research InstituteSan FranciscoUSA
  4. 4.University of California at San FranciscoSan FranciscoUSA

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