Original ArticlesNeutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I☆,☆☆
Section snippets
Methods
Patients were identified from hospital records of 16 metabolic centers in 12 European countries. Patients were coded by initials and date of birth to check for duplication. Retrospective patient records were discussed in a multicenter meeting and filled in by either the treating physician or by one of the investigators (J.P.R.). All known patients in the participating centers born after 1960 were included.
The diagnosis of GSD-Ib was made either with enzyme studies that showed the combination of
Results
The European study on GSD-I recorded details of 296 patients with GSD-I, among whom 65 were reported to have GSD-Ib. Of those 65, 8 patients were excluded because the enzyme studies were incomplete or unreliable. Details of the entire cohort will be described elsewhere, but none of the patients with GSD-Ia had documented neutropenia or neutrophil dysfunction.
The patients with GSD-Ib (30 male and 27 female) were born between 1964 and 1995; 49 are alive. The median age when data were collected
Discussion
In a large retrospective case study of patients with GSD-I older then 18 years of age, dead or alive, throughout the United States and Canada, Talente et al22 reported only 5 patients with GSD-Ib. These patients had a mean age of 21.8 years and represented 13.5% of patients in the study. In this retrospective multicenter study a large cohort of patients with GSD-Ib of all ages was studied. This could explain the higher percentage of patients with GSD-Ib (19.8% of all patients with GSD-I),
Acknowledgements
Participating centers: Austria: Prof W. Endres, Dr D. Skladal, Innsbruck; Belgium: Dr E. Sokal, Brussels; Czech Republic: Dr J. Zeman, Prague; France: Prof P. H. Labrune, Clamart; Germany: Dr P. Bührdel, Leipzig, Prof K. Ulrich, Hamburg, Prof U. Wendell, Düsseldorf; Great Britain: Prof J. V. Leonard, Dr P. Lee, London; Hungary: Dr L. Szönyi, Budapest; Italy: Dr P. Gandullia, Prof R. Gatti, Dr M. di Rocco, Genova, Prof G. Andria, Dr D. Melis, Napoli, Israel: Prof S. Moses, Beersheva; Poland:
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Supported in part by grants from Amgen, Breda, The Netherlands, and SHS Gesellschaft für klinische Ernährung mbH, Heilbronn, Germany.
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Reprint requests: G. Visser, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.