Severe chronic neutropenia is a general term that applies to both congenital and acquired cases. Kostmann syndrome is a subtype of chronic neutropenia with onset in early childhood with an autosomal recessive pattern of development. It can have an immune basis. The mainstay of treatment is G-CSF and the member has done 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, 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 if prolonged GCSF therapy predisposes to malignant transformation. However, when it causes infections, short term Neupogen therapy is appropriate.
P. S. Rosenberg, B. P. Alter, and B. P. Alter, “The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy,” Blood, vol. 107, no. 12, pp. 4628–4635, 2006.
P. S. Rosenberg, C. Zeidler, and C. Zeidler, “Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy: short report,” British Journal of Haematology, vol. 150, no. 2, pp. 196–199, 2010.
David C. Dale, Laurence A. Boxer Guidelines for pediatric management of severe chronic neutropenia American Journal of Hematology Volume 87, Issue 2, page 133, February 2012
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