title: Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry.
abstract: There are no epidemiological studies from the British Isles of chronic granulomatous disease, characterized by recurrent, life-threatening bacterial and fungal infections and inflammatory sequelae. Patients were enrolled in a national registry and medical records were analysed. Of 94 subjects, 69 had X-linked disease, 16 had autosomal recessive disease and nine were unknown. Prevalence was 7.5/million for 1990-99 and 8.5/million for 1980-89. Suppurative adenitis, abscesses and pneumonia presented commonly. Twenty-three of 30 patients who underwent high resolution computerized tomography had chronic respiratory disease. Inflammatory sequelae included bowel stricture and urogenital tract granulomata. Growth failure was common; 75% of those measured were below the population mean. All patients received prophylactic antibiotics and 93% anti-fungal prophylaxis. Interferon gamma was used to treat infection, but rarely as prophylaxis. Despite prophylaxis, estimated survival was 88% at 10 years but 55% at age 30 years. Morbidity remains significant, severe infectious complications common. Curative treatments including stem cell transplantation should be considered for patients with frequent or serious complications.
authors.affiliation: School of Clinical Medical Sciences, Child Health, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
authors.forename: L B K R
authors.initials: LB
authors.lastname: Jones
authors.forename: P
authors.initials: P
authors.lastname: McGrogan
authors.forename: T J
authors.initials: TJ
authors.lastname: Flood
authors.forename: A R
authors.initials: AR
authors.lastname: Gennery
authors.forename: L
authors.initials: L
authors.lastname: Morton
authors.forename: A
authors.initials: A
authors.lastname: Thrasher
authors.forename: D
authors.initials: D
authors.lastname: Goldblatt
authors.forename: L
authors.initials: L
authors.lastname: Parker
authors.forename: A J
authors.initials: AJ
authors.lastname: Cant
mesh_terms: D000293:Adolescent; D000328:Adult; D001228:Aspergillosis / Q000150:complications / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004812:Epidemiologic Methods; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009894:Opportunistic Infections / Q000150:complications / Q000453:epidemiology; D012141:Respiratory Tract Infections / Q000150:complications / Q000453:epidemiology; D013203:Staphylococcal Infections / Q000150:complications / Q000453:epidemiology; D006113:United Kingdom / Q000453:epidemiology