title: Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.
abstract: OBJECTIVE
  Chronic granulomatous disease (CGD) is an inherited disorder of the reduced nicotinamide adenine dinucleotide phosphate oxidase complex within phagocytic cells that predisposes people to bacterial and fungal infections. Approximately 40% of patients with CGD have gastrointestinal involvement. We aimed to characterize the endoscopic features of gastrointestinal CGD and define the role of endoscopy in patients.
  
  
  METHODS
  We created a database of all patients with CGD seen at the National Institutes of Health from 1990 through 2010. We identified patients who had an endoscopy, and collected information from those with CGD-associated inflammatory bowel disease. We analyzed clinical data (demographic information and symptoms), endoscopic data (indication, preparation quality, degree of inflammation, mucosal findings, and complications), and pathologic data.
  
  
  RESULTS
  A total of 211 endoscopies (96 esophagogastroduodenoscopies, 82 colonoscopies, and 33 flexible sigmoidoscopies) were performed at the National Institutes of Health on 78 patients with CGD. Esophageal, gastric, and duodenal inflammation were detected in 21%, 74%, and 37% of patients, respectively. Esophageal dysmotility and structural abnormalities were noted in 26%. Of the patients who had colonic CGD-inflammatory bowel disease, 74% had skip lesions and 93% had anorectal disease. Enteric fistulae were found in 18% of patients; 73% of these were perianal. Colonic strictures were observed in 24% of patients; 80% were in the anorectal area.
  
  
  CONCLUSIONS
  Based on an analysis of clinical and endoscopic data from 78 patients, CGD-inflammatory bowel disease is a distinct entity, primarily involving the anus and rectum, with skip lesions in the remaining bowel. Bowel strictures and fistulae are present in a significant number of patients. Upper gastrointestinal tract inflammatory disease is common, although typically not as severe as colonic disease. Upper and lower endoscopies are important in characterizing the gastrointestinal features of CGD.
authors.affiliation: National Institutes of Health, Bethesda, Maryland; University of Maryland Medical Center, Baltimore, Maryland.
authors.forename: Sajneet K
authors.initials: SK
authors.lastname: Khangura
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Natasha
authors.initials: N
authors.lastname: Kamal
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Nancy
authors.initials: N
authors.lastname: Ho
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Martha
authors.initials: M
authors.lastname: Quezado
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Xiongce
authors.initials: X
authors.lastname: Zhao
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Marciano
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Simpson
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Christa
authors.initials: C
authors.lastname: Zerbe
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Gulbu
authors.initials: G
authors.lastname: Uzel
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Yao
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Suk See
authors.initials: SS
authors.lastname: DeRavin
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Colleen
authors.initials: C
authors.lastname: Hadigan
authors.affiliation: SAIC-Frederick, Inc, NCI Frederick, Frederick, Maryland.
authors.forename: Douglas B
authors.initials: DB
authors.lastname: Kuhns
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: John I
authors.initials: JI
authors.lastname: Gallin
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Harry L
authors.initials: HL
authors.lastname: Malech
authors.affiliation: National Institutes of Health, Bethesda, Maryland.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: National Institutes of Health, Bethesda, Maryland. Electronic address: theoh@intra.niddk.nih.gov.
authors.forename: Theo
authors.initials: T
authors.lastname: Heller
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004724:Endoscopy; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology* / Q000473:pathology*; D041981:Gastrointestinal Tract / Q000473:pathology*; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009316:National Institutes of Health (U.S.); D012189:Retrospective Studies; D014481:United States / Q000453:epidemiology; D055815:Young Adult
keywords: Database Analysis; Disease Phenotype; GI; Intestine