title: NADPH oxidase activity and chemotaxis by neutrophils in two patients with glycogen storage disease type Ib treated with recombinant human granulocyte-monocyte colony-stimulating factor.
abstract: Polymorphonuclear neutrophils play an important role against pathogens through the production of toxic oxygen metabolites by the NADPH oxidase enzyme, which reduces oxygen to superoxide anion in the respiratory burst. Neutropenia, infectious complications and impaired neutrophil function are often reported in glycogen storage disease type Ib (GSDIb), a metabolic disorder characterized by increased glycogen and decreased glucose-6-phosphatase (G-6-P) activity in the liver. Two children with GSDIb and associated neutropenia with recurrent bacterial infections were treated daily with different doses of rHu-GM-CSF. NADPH oxidase activity and chemotaxis in patients were assessed before and during therapy in stimulated and unstimulated neutrophils. During rHu-GM-CSF treatment, any increase found in the NADPH oxidase activity of patients was not significant with respect to that in controls. In one patient chemotaxis was greater than of controls. This finding suggests that in patients with GSDIb both neutropenia and PMN abnormalities may be responsible for infections, and PMN dysfunction probably depends on the degree of inherited functional G-6-P deficit.
authors.affiliation: Department of Laboratory Medicine, University-Hospital of Padua, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Piva
authors.forename: S
authors.initials: S
authors.lastname: De Toni
authors.forename: C
authors.initials: C
authors.lastname: Bovo
authors.forename: A
authors.initials: A
authors.lastname: Bordugo
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
authors.forename: M
authors.initials: M
authors.lastname: Plebani
mesh_terms: D002634:Chemotaxis, Leukocyte / Q000187:drug effects*; D002648:Child; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000188:drug therapy* / Q000201:enzymology; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000097:blood*; D019255:NADPH Oxidases; D009504:Neutrophils / Q000187:drug effects*; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D016178:Granulocyte-Macrophage Colony-Stimulating Factor; D009247:NADH, NADPH Oxidoreductases; D019255:NADPH Oxidases