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Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation

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Abstract

Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient’s infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised. Conclusion:although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.

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Abbreviations

G6PT :

glucose-6-phosphate translocase

GSD :

glycogen storage disease

GSD1b :

glycogen storage disease type 1b

LT :

liver transplantation

PMA :

phorbol-12-myristate-13-acetate

rhGCSF :

recombinant human granulocyte colony stimulating factor

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Acknowledgement

The authors thank Prof. Dr. Beat Steinmann, Children’s Hospital, Zurich for valuable comments regarding chimerism.

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Authors and Affiliations

  1. Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre, Mutsukawa 2-138-4, Minami-ku, 232-8555, Yokohama, Japan

    Masanori Adachi & Katsuhiko Tachibana

  2. Department of Surgery, Kanagawa Children’s Medical Centre, Yokohama, Japan

    Masato Shinkai & Youkatsu Ohhama

  3. Research Institute, International Medical Centre of Japan, Tokyo, Japan

    Tadatoshi Kuratsuji

  4. NPO HLA Laboratory, Kyoto, Japan

    Hiroh Saji & Etsuko Maruya

Authors
  1. Masanori Adachi
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  2. Masato Shinkai
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  3. Youkatsu Ohhama
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  4. Katsuhiko Tachibana
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  5. Tadatoshi Kuratsuji
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  6. Hiroh Saji
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  7. Etsuko Maruya
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Correspondence to Masanori Adachi.

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Adachi, M., Shinkai, M., Ohhama, Y. et al. Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. Eur J Pediatr 163, 202–206 (2004). https://doi.org/10.1007/s00431-004-1405-1

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  • DOI: https://doi.org/10.1007/s00431-004-1405-1

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