Intractable colitis associated with chronic granulomatous disease in a young girl

Turk J Pediatr. 2015 Mar-Apr;57(2):189-91.

Abstract

Chronic granulomatous disease (CGD) is an autosomal recessive or X-linked disorder caused by NADPH oxidase deficiency leading to an impaired ability of reactive superoxide anion and metabolite formation and recurring severe bacterial and fungal infections, with a high mortality rate. Diarrhea, colitis, ileus, perirectal abscess formation and anal fissures are reported gastrointestinal findings in these patients. We report a case of intractable colitis associated with CGD in a young girl.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Colitis / diagnosis
  • Colitis / etiology*
  • Colitis / therapy
  • Female
  • Granulomatous Disease, Chronic / complications*
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / therapy
  • Humans
  • NADPH Oxidases / deficiency

Substances

  • NADPH Oxidases