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Overview

 


Iis listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health

(NIH). This means that Kostmann disease, or a subtype of Kostmann disease


Symptoms of Kostmann disease


Some of the symptoms of Kostmann disease incude:

  • Premature tooth loss
  • Gum infections
  • Frequent bacterial infections
  • Fever
  • Mouth ulcers

Treatment


Medical Care
  • Treating Kostmann disease with prophylactic antibiotics may be considered but are not usually required (see Medication).
  • Granulocyte colony stimulating factor (G-CSF) is administered to stimulate neutrophil production (see Medication). Ninety percent of cases respond with increased neutrophil count and less infections. Some patients need doses of as much as 120 μ g/kg.
  • Therapy with steroids and testosterone is not effective.

Surgical Care

  • Drain abscess as needed.
  • Splenectomy is not effective.
  • Consider bone marrow transplantation only in patients unresponsive to therapy with G-CSF or in those with leukemic transformation.

Consultations

  • Pediatric immunologist
  • Pediatric hematologist


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