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Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1

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Abstract

Patients with glycogen storage disease type 1b (GSD-1b) have neutropenia and neutrophil dysfunction that predispose to frequent infections and inflammatory bowel disease (IBD), for which granulocyte colonystimulating factor (GCSF) is given. To investigate the use and the value of GCSF treatment in GSD-1b, a retrospective registry of GSD-1 patients born between 1960 and 1995 in 12 European countries was established. Included were 57 GSD-1b patients. Unglycosylated GCSF was given to 18 patients, median age of starting therapy was 8 years, longest duration of therapy 7 years. Dose varied between 2–10 μg/kg, with a frequency from daily to twice per week. Neutropenia (defined as an absolute neutrophil count <0.5×109/1) was found in 49 patients. In untreated patients, a significant decrease of haemoglobin, platelet counts and leucocyte counts with increasing age (P<0.032,P<0.04 andP<0.001 respectively) was noted, whereas neutrophil counts remained low but stable with increasing age. In nine patients who were treated longer than 1 year, median neutrophil counts increased significantly and simultaneously median leucocyte counts and platelet counts decreased significantly. In all patients treated, the number and severity of infections decreased and the severity of IBD improved subjectively. The most serious complication of GCSF treatment was marked splenomegaly (four patients).Conclusion: in this retrospective study a significant haematological effect was documented and a subjective improvement of infections and inflammatory bowel disease. In view of the uncertainty, prospective controlled trials seem warranted to clarify the indication for the use of granulocyte colony-stimulating factor in this disease.

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Abbreviations

ESGSD :

European study on glycogen storage disease

GCSF :

granulocyte colony stimulating factor

GSD :

glycogen storage disease

IBD :

inflammatory bowel disease

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Author information

Author notes

  1. Gepke Visser

    Present address: Wilhelmina Children’s Hospital, University Hospital Utrecht, PO Box 85090, 3508 AB, Utrecht, The Netherlands

Authors and Affiliations

  1. Beatrix Children’s Hospital, University Hospital, Groningen, The Netherlands

    Gepke Visser, Jan Peter Rake & G. Peter A. Smit

  2. Hospital Antoine-Béclère, Clamart, France

    Philippe Labrune

  3. Institute of Child Health, Great Ormond Street Hospital, London, UK

    James V. Leonard

  4. Department of Paediatrics, Soroka Medical Centre, Beersheva, Israel

    Shimon Moses

  5. Department of Paediatrics, University Hospital, Hamburg, Germany

    Kurt Ullrich

  6. Department of Paediatrics, University Hospital, Düsseldorf, Germany

    Udo Wendel

  7. Department of General Practice, University Hospital Groningen, The Netherlands

    Klaas H. Groenier

Authors
  1. Gepke Visser
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  2. Jan Peter Rake
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  4. James V. Leonard
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  5. Shimon Moses
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  6. Kurt Ullrich
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  7. Udo Wendel
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  8. Klaas H. Groenier
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  9. G. Peter A. Smit
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Correspondence to Gepke Visser.

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Published online: 17 July 2002

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Visser, G., Rake, J.P., Labrune, P. et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1. Eur J Pediatr 161, S83–S87 (2002). https://doi.org/10.1007/BF02680001

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