Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency

J Pediatr Hematol Oncol. 2014 Jul;36(5):e316-8. doi: 10.1097/MPH.0000000000000079.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Colitis / drug therapy
  • Colitis / etiology*
  • Colitis, Ulcerative
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Filgrastim
  • Glucose-6-Phosphatase / genetics*
  • Glucose-6-Phosphatase / metabolism
  • Glycogen Storage Disease Type I / complications*
  • Granulocyte Colony-Stimulating Factor / therapeutic use*
  • Humans
  • Infant
  • Inflammation
  • Mutation / genetics
  • Neutropenia / complications
  • Neutropenia / congenital*
  • Polyethylene Glycols
  • Prognosis
  • Recombinant Proteins / therapeutic use

Substances

  • Recombinant Proteins
  • Granulocyte Colony-Stimulating Factor
  • pegfilgrastim
  • Polyethylene Glycols
  • Glucose-6-Phosphatase
  • G6PC3 protein, human
  • Filgrastim

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3