Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry |
| |
Authors: | Jones L B K R McGrogan P Flood T J Gennery A R Morton L Thrasher A Goldblatt D Parker L Cant A J |
| |
Affiliation: | School of Clinical Medical Sciences, Child Health, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. |
| |
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. |
| |
Keywords: | Aspergillus infection chronic granulomatous disease colitis pneumonia Staphylococcal infection |
本文献已被 PubMed 等数据库收录! |
|