Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.
ANC, Absolute Neutrophil Count
Anti-inflammatory solutions
CD, Crohn's disease
CRP, C-reactive protein
EEN, Exclusive Enteral Nutrition
EN, Enteral Nutrition
ENT, Ear, Nose and Throat
ESR, erythrocyte sedimentation rate
G-CSF, Granulocyte colony-stimulating factor
G6PT, glucose-6-phosphate translocase
GSD1, Glycogen storage disease type I
Glycogen storage disease type 1B
Harvey Bradshaw score
IBD, Inflammatory Bowel Disease
Inflammatory bowel disease
Neutropenia
PEN, Partial Enteral Nutrition
SD, Standard Deviation
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
21
03
2020
accepted:
22
03
2020
entrez:
18
4
2020
pubmed:
18
4
2020
medline:
18
4
2020
Statut:
epublish
Résumé
Glycogenosis type Ib (GSD1B) causes not only hypoglycemia but also infections and "Crohn's disease like" inflammatory bowel disease (IBD) that can significantly impair patient's quality of life. We retrospectively evaluated infectious and digestive complications in 9 French patients (3 girls, 6 boys) diagnosed at 0.8 years on average, with a mean follow-up of 19.1 years. Infections occurred earlier than IBD, at mean ages of 1.7 and 3.8 years, respectively. The number of acute hospitalizations was 0.7/year due to infectious (0.4/year) or digestive symptoms (0.4/year). Clinical presentations allowed separating patients into mild (
Identifiants
pubmed: 32300528
doi: 10.1016/j.ymgmr.2020.100581
pii: S2214-4269(20)30027-6
pii: 100581
pmc: PMC7152669
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100581Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
FR has received speaker fees from: Shering-Plough, Nestlé, MeadJohnson, Ferring, MSD, Johnson & Johnson, Centocor, AbbVie; serves as a board member for: SAC:DEVELOP (Johnson & Johnson), and has been invited to MSD France, Nestlé Nutrition Institute, Nestlé Health Science, Danone, MeadJohnson; TAKEDA, CELLGENE, BIOGENE, ARKOPHARMA. The other authors have no conflicts of interest.
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