Kostmann Disease Medication

  • Author: Michael S Tankersley, MD, FAAAAI, FACAAI, FAAP; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: Aug 11, 2010
 

Medication Summary

Select antibiotics for infections according to the same principles and standards of care as for other patients. Prophylactic antibiotics may be considered but are required infrequently since the advent of granulocyte colony-stimulating factor (G-CSF) in 1987. Staphylococci and streptococci are the most common causes of infections. Frequent or long-term antibiotic use may result in infections from resistant bacteria, anaerobic bacteria, yeast, fungi, and parasites.

G-CSF requires long-term daily administration to maintain clinical benefit. The absolute neutrophil count (ANC) should not be the sole indicator of clinical efficacy. Individually adjust dosages on the basis of both the patient's clinical course and the ANC.

Consider bone marrow transplantation only in patients unresponsive to therapy with G-CSF or in those with leukemic transformation.

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Colony-stimulating factors

Class Summary

These agents are used to stimulate neutrophil production and act as hematopoietic growth factors that stimulate the development of granulocytes. They are used to treat or prevent neutropenia.

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Filgrastim (G-CSF, Neupogen)

 

Recombinant methionyl human G-CSF (r-metHuG-CSF) consisting of a 175-amino acid protein with a molecular weight of 18,800 d. Produced by Escherichia coli bacteria into which the human G-CSF gene is inserted. This protein has an amino acid sequence identical to the natural sequence predicted from human DNA sequence analysis, except for the addition of an N -terminal methionine necessary for expression in E coli. Because it is produced in E coli, product is nonglycosylated and thus differs from G-CSF isolated from human cells.

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Contributor Information and Disclosures
Author

Michael S Tankersley, MD, FAAAAI, FACAAI, FAAP  Program Director, Allergy and Immunology Fellowship; Division Chief, Allergy and Immunology, Department of Medicine, Wilford Hall Medical Center, Lackland Air Force Base, San Antonio, Texas

Michael S Tankersley, MD, FAAAAI, FACAAI, FAAP is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, and Joint Council of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Specialty Editor Board

James M Oleske, MD, MPH  François-Xavier Bagnoud Professor of Pediatrics, Director, Division of Pulmonary, Allergy, Immunology and Infectious Diseases, Department of Pediatrics, New Jersey Medical School

James M Oleske, MD, MPH is a member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Pediatrics, American Public Health Association, American Society for Microbiology, Infectious Diseases Society of America, and Pediatric Infectious Diseases Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

David J Valacer, MD  Consulting Staff, Hoffman La Roche Pharmaceuticals

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

References

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  2. Carlsson G, van't Hooft I, Melin M, et al. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med. Oct 2008;264(4):388-400. [Medline].

  3. Weinblatt ME, Scimeca P, James-Herry A, et al. Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony- stimulating factor. J Pediatr. Feb 1995;126(2):263-5. [Medline].

  4. Smith BN, Ancliff PJ, Pizzey A, Khwaja A, Linch DC, Gale RE. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol. Mar 2009;144(5):762-70. [Medline].

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  9. Baehner RL, Miller DR. Disorders of granulopoiesis. In: Blood Diseases of Infancy and Childhood. 1995:555-92.

  10. Barnes C, Gerstle JT, Freedman MH, Carcao MD. Clostridium septicum myonecrosis in congenital neutropenia. Pediatrics. Dec 2004;114(6):e757-60. [Medline]. [Full Text].

  11. Calhoun DA, Christensen RD. The occurrence of Kostmann syndrome in preterm neonates. Pediatrics. Feb 1997;99(2):259-61. [Medline].

  12. Carlsson G, Aprikyan AA, Tehranchi R, et al. Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells. Blood. May 1 2004;103(9):3355-61. [Medline]. [Full Text].

  13. Dale DC, Cottle TE, Fier CJ, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. Feb 2003;72(2):82-93. [Medline].

  14. Hakki SS, Aprikyan AA, Yildirim S, et al. Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases. J Periodontol. May 2005;76(5):837-44. [Medline].

  15. Hsiao CC, Chen CL, Eng HL. Inflammatory pseudotumor of the liver in Kostmann's disease. Pediatr Surg Int. 1999;15(3-4):266-9. [Medline].

  16. Levine JE, Wiley J, Kletzel M, et al. Cytokine-mobilized allogeneic peripheral blood stem cell transplants in children result in rapid engraftment and a high incidence of chronic GVHD. Bone Marrow Transplant. Jan 2000;25(1):13-8. [Medline].

  17. Shekhter-Levin S, Penchansky L, Wollman MR, et al. An abnormal clone with monosomy 7 and trisomy 21 in the bone marrow of a child with congenital agranulocytosis (Kostmann disease) treated with granulocyte colony-stimulating factor. Cancer Genet Cytogenet. Oct 15 1995;84(2):99-104. [Medline].

  18. Tidow N, Kasper B, Welte K. SH2-containing protein tyrosine phosphatases SHP-1 and SHP-2 are dramatically increased at the protein level in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). Exp Hematol. Jun 1999;27(6):1038-45. [Medline].

  19. Welte K, Boxer LA. Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol. Oct 1997;34(4):267-78. [Medline].

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  21. Yakisan E, Schirg E, Zeidler C, Bishop NJ, Reiter A, Hirt A, et al. High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome). J Pediatr. Oct 1997;131(4):592-7. [Medline].

 
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