Severe chronic neutropenia is a general term that applies to both congenital and acquired cases. Kostman syndrome is a subtype of chronic neutropenia with onset in early childhood with an autosomal recessive pattern of inheritance. It can have an immune basis. The mainstay of treatment is G-CSF(Neupogen) and many patients do well on it. It is not, however, a curative treatment. Approximately 90% of patients respond to GCSF administration with a subsequent decrease in sepsis-related mortality to almost 1% per year during the first decade of life but with a cumulative incidence of 21% of progression to acute leukemia following 10 years of GCSF. Recently updated North American registry data suggest a relative plateau in the hematologic malignancy risk after 10–15 years. It remains controversial and unknown if prolonged GCSF therapy predisposes to this malignant transformation. However, when neutropenia causes infections, short term Neupogen therapy is certainly appropriate.
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