title: Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency.
abstract: Glucose 6 phosphatase catalytic subunit-3 (G6PC3) deficiency is a heterogenous disorder characterized by severe congenital neutropenia and a variety of extrahematopoietic manifestations. Inflammatory bowel disease like colitis is an uncommon complication of G6PC3 deficiency, described only in adolescent and adults. Herein, we describe inflammatory colitis in a 10-year-old girl with severe congenital neutropenia due to G6PC3 deficiency while she was on a high-dose filgrastim. Switching from filgrastim to (pegylated filgrastim) Pegfilgrastim led to rapid resolution of colitis, weight gain, and decreased infections. Pegfilgrastim seems to be a better remedy for treatment of G6PC3 deficiency complicated with inflammatory bowel disease.
authors: *The Pediatric Hematology Unit of the Department of Pediatrics, Division of Pediatric Hematology †The Pediatric Gastroenterology Unit of the Department of Pediatrics, the Department of Pathology ‡Medical School of Gazi University, Ankara, Turkey.
authors: Zühre
authors: Z
authors: Kaya
authors: Odül
authors: O
authors: Eğritaş
authors: Meryem
authors: M
authors: Albayrak
authors: Pinar Uyar
authors: PU
authors: Göçün
authors: Ulker
authors: U
authors: Koçak
authors: Buket
authors: B
authors: Dalgiç
authors: Türkiz
authors: T
authors: Gürsel
mesh_terms: D002648:Child; D003092:Colitis / Q000188:drug therapy / Q000209:etiology*; D003093:Colitis, Ulcerative; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D000069585:Filgrastim; D005952:Glucose-6-Phosphatase / Q000235:genetics* / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007249:Inflammation; D009154:Mutation / Q000235:genetics; D009503:Neutropenia / Q000150:complications / Q000151:congenital*; D011092:Polyethylene Glycols; D011379:Prognosis; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; C455861:pegfilgrastim; D011092:Polyethylene Glycols; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human; D000069585:Filgrastim