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Information and medical research site about Dyskeratosis Congenita

Patient care and treatment

 
Care of infants and patients affected by DC requires a multidisciplinary approach associating pediatricians, specialists of blood disorders and skin disorders, geneticists and organ specialists. Care is dominated by symptomatic treatment of the aplastic anemia and the immune deficiency using :
  
  • Androgens which  can sometimes transitorily improve blood counts
  
  • Blood transfusions (red cells, platelets) in cases of severe cytopenias.
  
  • A hematopoietic growth factor,  G-CSF, to combat bacterial infections
  
  • Preventive and curative anti-infectious treatments to control infections due to neutropenia and immuno-suppression. 

The only truly curative treatment for bone marrow failure is allogenic haematopoietic stem cell transplantation (marrow or cord blood transfusions). However, success rate of these transplants is poor with a high mortality risk.

Current hope is linked to the use of new  pre-transplantation conditioning regimens using cyclophosphamide and antilymphocyte serum  or fludarabine, which seem to give encouraging results.

Gene therapy remains a theoretical goal and there is no advanced project in this area concerning DC.



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Last modified: novembre 26,  2007