Τίτλος:
Chronic granulomatous disease: The European experience
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation. However, a clear picture of the clinical course of CGD is hampered by its low prevalence (∼1:250,000). Therefore, extensive clinical data from 429 European patients were collected and analyzed. Of these patients 351 were males and 78 were females. X-linked (XL) CGD (gp91phox deficient) accounted for 67% of the cases, autosomal recessive (AR) inheritance for 33%. AR-CGD was diagnosed later in life, and the mean survival time was significantly better in AR patients (49.6 years) than in XL CGD (37.8 years), suggesting a milder disease course in AR patients. The disease manifested itself most frequently in the lungs (66% of patients), skin (53%), lymph nodes (50%), gastrointestinal tract (48%) and liver (32%). The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%). Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia (<1%) were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. Only 71% of the patients received antibiotic maintenance therapy, and 53% antifungal prophylaxis. 33% were treated with γ-interferon. 24 patients (6%) had received a stem cell transplantation. The most prominent reason of death was pneumonia and pulmonary abscess (18/84 cases), septicemia (16/84) and brain abscess (4/ 84). These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients. © 2009 van den Berg et al.
Συγγραφείς:
van den Berg, J.M.
van Koppen, E.
Åhlin, A.
Belohradsky, B.H.
Bernatowska, E.
Corbeel, L.
Espanñol, T.
Fischer, A.
Kurenko-Deptuch, M.
Mouy, R.
Petropoulou, T.
Roesler, J.
Seger, R.
Stasia, M.-J.
Valerius, N.H.
Weening, R.S.
Wolach, B.
Roos, D.
Kuijpers, T.W.
Λέξεις-κλειδιά:
amphotericin B; BCG vaccine; ciprofloxacin; clindamycin; cotrimoxazole; gamma interferon; itraconazole; ketoconazole; reduced nicotinamide adenine dinucleotide phosphate oxidase; reduced nicotinamide adenine dinucleotide phosphate oxidase 2; rifampicin, adult; article; Aspergillus; autosomal recessive inheritance; bacterial infection; bacterium culture; brain abscess; Burkholderia cepacia; cause of death; chronic granulomatous disease; clinical feature; controlled study; disease course; enzyme deficiency; Europe; female; gastrointestinal disease; gene deletion; gene mutation; granulocyte transfusion; human; immune deficiency; inoculation; liver disease; lung abscess; lung disease; lymphadenitis; lymphadenopathy; major clinical study; male; Mycobacterium tuberculosis; mycosis; pathogenesis; phagocytosis; phagosome; pneumonia; prevalence; protein assembly; Pseudomonas; respiratory burst; Salmonella; septicemia; skin disease; skin infection; Staphylococcus aureus; stem cell transplantation; survival rate; tuberculosis; X chromosome linkage; chronic granulomatous disease; Europe; genetics; pathology, Aspergillus; Burkholderia cepacia; Pseudomonas; Salmonella; Staphylococcus aureus, Europe; Female; Granulomatous Disease, Chronic; Humans; Male
DOI:
10.1371/journal.pone.0005234
