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 :
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.