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.
