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Cystinosis

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Dr Rajan Ravichandran, Chennai    29 November 2019

  • Cystinosis is a rare disease leading to accumulation of cysteine in lysosomes causing apoptotic cell death leading to organ dysfunction.
  • Only in 2012, the Cystinosis Foundation India was formed with the initiative to pool up these unfortunate patients.
  • Thirty patients have been identified and registered with the foundation. Out of these, only 8 are receiving specific therapy with cysteamine. Four patients have undergone successful kidney transplantation. Eight patients have died since registering with the foundation. Seventeen patients were picked up with advanced growth retardation and renal failure. Only 2 children were picked up in early stage.

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