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Effect of granulocyte-colony stimulating factor in glycogen storage disease type Ib
G V Zuccotti1, R Longhi, P Flumine
15th Department of Pediatrics, University of Milan, Italy.
Insights
Granulocyte colony-stimulating factor (G-CSF) effectively increased neutrophil counts in children with glycogen storage disease type Ib (glycogenosis Ib). This treatment may help prevent severe infections in patients with neutropenia.
Area of Science:
- Biochemistry
- Hematology
- Pediatrics
Background:
- Glycogen storage disease type Ib (glycogenosis Ib) is a metabolic disorder characterized by neutropenia and impaired neutrophil function.
- Patients with glycogenosis Ib are susceptible to recurrent bacterial and fungal infections, particularly those with very low polymorphonuclear leucocyte counts.
Purpose of the Study:
- To evaluate the efficacy of granulocyte colony-stimulating factor (G-CSF) in increasing polymorphonuclear leucocyte (PMN) counts in children with glycogenosis Ib.
- To determine the role of absolute PMN count versus neutrophil function in infection susceptibility in these patients.
Main Methods:
- Treatment of five children with glycogenosis Ib using G-CSF, a hematopoietic growth factor.
- Monitoring of polymorphonuclear leucocyte counts and recording of infectious episodes before and during treatment.
Main Results:
- G-CSF administration led to a significant increase in PMN counts in all treated patients.
- Neutrophil function showed some restoration following G-CSF treatment.
- Infection susceptibility was strongly correlated with absolute PMN count, more so than with functional defects.
Conclusions:
- Absolute neutrophil count is a critical factor in determining infection risk in glycogenosis Ib patients.
- G-CSF is an effective treatment for increasing PMN numbers in glycogenosis Ib.
- G-CSF may be beneficial in managing severe infections in glycogenosis Ib patients with neutropenia.
Abstract:
Five children with glycogen storage disease type Ib (glycogenosis Ib), a metabolic defect associated with neutropenia and impairment of neutrophil function, were treated with granulocyte colony stimulating factor, a haemopoietic growth factor that induces a significant increase in polymorphonuclear leucocyte count in vivo. Recurrent bacterial or fungal infections were recorded in the three patients who had very low polymorphonuclear leucocyte counts. Experience at this centre indicates that the absolute number of polymorphonuclear leucocytes is more important than the alteration of their metabolic function in determining the susceptibility of the patients to infection. Granulocyte colony stimulating factor was effective at increasing polymorphonuclear leucocyte numbers (and restored function to some extent) in patients with glycogenosis Ib. This drug might be beneficial in cases of severe infection, in glycogenesis Ib patients with neutropenia.