Progress of inherited bone marrow failure syndromes / 国际儿科学杂志

ABSTRACT

Inherited bone marrow failure syndromes are a group of congenital diseases.Their pathogenesis are not entirely clear.The causative genes have been found in part of the diseases, and we have preliminarily mastered their diagnosis and treatment.The diagnosis is mostly based on typical clinical manifestations and related laboratory tests.Along with the genetic testing developmenff,genetic testing has become the main method to diagnose IBMFS.Hematopoietic stem cell transplantation is currently the only way to cure these diseases.Support and symptomatic treatment also play an important role in terms of delaying and improving the condition.Gene therapy is still not mature, and other treatments are constantly being explored.