Abstrakt
The inherited bone marrow failure (BMF) syndromes are characterized by impaired hematopoiesis and cancer predisposition. Most inherited BMF syndromes are also associated with a range of congenital anomalies.
Progress in improving the outcomes for children with inherited BMF syndromes has been limited by the rarity of these disorders, as well as disease-specific genetic, molecular, cellular, and clinical characteristics that increase the risks of complications associated with hematopoietic stem cell transplantation (HSCT). As a result, the ability to develop innovative transplant approaches to circumvent these problems has been limited.
Recent progress has been made, as best evidenced in studies adding fludarabine to the preparative regimen for children undergoing unrelated donor HSCT for Fanconi anemia. The rarity of these diseases coupled with the far more likely incremental improvements that will result from ongoing research will require prospective international clinical trials to improve the outcome for these children.