Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib

1993 ◽  
Vol 152 (1) ◽  
pp. 18-20 ◽  
Author(s):  
A. Ishiguro ◽  
T. Nakahata ◽  
T. Shimbo ◽  
Y. Amano ◽  
K. Yasui ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Neutrophil Dysfunction ◽  
Stimulating Factor

Effect of Granulocyte-Colony Stimulating Factor in Glycogen Storage Disease Type IB

1993 ◽  
Vol 21 (5) ◽  
pp. 276-279 ◽  
Author(s):  
G V Zuccotti ◽  
R Longhi ◽  
P Flumine ◽  
A Stangalint ◽  
E Riva
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Polymorphonuclear Leucocyte ◽  
Disease Type ◽  
Polymorphonuclear Leucocytes ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Stimulating Factor

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 glycogenosis Ib patients with neutropenia.

Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b

Blood ◽  
2001 ◽  
Vol 97 (2) ◽  
pp. 376-382 ◽  
Author(s):  
Stanley Calderwood ◽  
Laurie Kilpatrick ◽  
Steven D. Douglas ◽  
Melvin Freedman ◽  
Kim Smith-Whitley ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Neutrophil Function ◽  
Glycogen Storage ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Marrow Cellularity ◽  
Neutrophil Dysfunction ◽  
Stimulating Factor

Abstract The purpose of this study was to evaluate the efficacy and toxicity of recombinant human granulocyte colony-stimulating factor (rhG-CSF) therapy in patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease (GSD) type 1b. Thirteen patients with neutropenia and/or neutrophil dysfunction secondary to GSD type 1b were treated with rhG-CSF. The effects of therapy on neutrophil numbers and in vitro neutrophil function and on bone marrow cellularity and morphology were studied. The clinical status of the patients and the occurrence of adverse events associated with rhG-CSF use were monitored. Use of rhG-CSF therapy was associated with a significant increase in circulating neutrophil numbers (P < .01) and an improvement in neutrophil function as assessed in vitro. In addition, rhG-CSF therapy produced a significant increase in marrow cellularity and an increase in myeloid:erythroid (M:E) ratio, indicating stimulation of granulopoeisis. No adverse effects on marrow function were noted; in particular, no myelodysplasia or marrow exhaustion was seen. Use of rhG-CSF therapy was associated with objective and subjective improvements in infection-related morbidity. The therapy was well tolerated, although all patients developed splenomegaly, and 5 patients developed mild hypersplenism that did not require any specific treatment. rhG-CSF therapy is efficacious in the management of neutropenia and neutrophil dysfunction associated with GSD type 1b. Patients on this therapy need to be monitored for hypersplenism. Continued follow-up will be necessary to confirm long-term safety; however, no significant short-term toxicity was noted.

scholarly journals Amelioration of Neutrophil Membrane Function Underlies Granulocyte-Colony Stimulating Factor Action in Glycogen Storage Disease 1b

2005 ◽  
Vol 18 (2) ◽  
pp. 297-307 ◽  
Author(s):  
E. Lesma ◽  
E. Riva ◽  
M. Giovannini ◽  
A.M. Di Giulio ◽  
A. Gorio
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Old Patients ◽  
Membrane Function ◽  
Functionally Impaired ◽  
Neutrophil Dysfunction ◽  
Stimulating Factor

Glycogen storage disease (GSD) 1b is a metabolic disorder characterized by a deficiency of glucose 6-phosphate transporter and neutrophil alterations, which are reduced in number and functionally impaired. The present study aimed at investigating neutrophil dysfunction correlating submembrane and cytoskeletal changes at different ages with or without granulocyte-colony stimulating factor (G-CSF) treatment. GSD1b neutrophils showed reduced expression and diffused localization of focal adhesion kinase (FAK) and actin. No abnormalities were observed in GSD1a patient neutrophils. Gelsolin was also slightly reduced in neutrophils of GSD1b patients. When patients were treated for at least 3 months with G-CSF, the neutrophil number and the expression of FAK and actin were significantly increased. Granulocyte colony-stimulating factor treatment was similarly effective when performed in 1 year old patients. FAK auto- and IL-8-mediated phosphorylations were already affected as early as 1 year of age. G-CSF treatment also improved this alteration. Our data suggest that neutrophil dysfunction in GSD1b patients might be related to functional impairment and disorganization of proteins of the sub-membrane apparatus, and that G-CSF treatment counteracts neutropenia and prevents the progressive alterations of neutrophil sub-membrane proteins.

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