Chronic granulomatous disease: the European experience.
Chronic granulomatous disease: the European experience.
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DOI：
10.1371/journal.pone.0005234
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发表时间：
2009
期刊：
影响因子：
3.7
通讯作者：
Kuijpers TW
中科院分区：
文献类型：
--
作者：
van den Berg JM;van Koppen E;Ahlin A;Belohradsky BH;Bernatowska E;Corbeel L;Español T;Fischer A;Kurenko-Deptuch M;Mouy R;Petropoulou T;Roesler J;Seger R;Stasia MJ;Valerius NH;Weening RS;Wolach B;Roos D;Kuijpers TW
CGD是由编码白细胞NADPH氧化酶复合物亚单位的基因缺失或突变引起的免疫缺陷。通常，NADPH氧化酶复合物在某些吞噬细胞的吞噬体中的组装导致"呼吸爆发"，这对于清除被吞噬的微生物是必需的。CGD患者缺乏这种机制，导致危及生命的感染和肉芽肿形成。然而，CGD的低患病率（约1 ∶ 250，000）阻碍了对CGD临床过程的清晰描述。因此，收集并分析了429例欧洲患者的广泛临床数据。其中351例为男性，78例为女性。X连锁CGD（gp91phox缺陷型）占67%，常染色体隐性遗传（AR）占33%。AR-CGD在生命后期被诊断，AR患者的平均生存时间（49.6年）明显优于XL CGD（37.8年），表明AR患者的病程较轻。该疾病最常见于肺（66%的患者）、皮肤（53%）、淋巴结（50%）、胃肠道（48%）和肝脏（32%）。最常见的微生物为金黄色葡萄球菌（30%）、曲霉菌属（30%）、葡萄球菌属（30%）和葡萄球菌属（30%）。(26%）和沙门氏菌属（Salmonella spp.）(16%).令人惊讶的是，假单胞菌属（Pseudomonas spp.）洋葱伯克霍尔德菌（<1%）仅零星发现。8%的患者发生卡介苗接种引起的病变。只有71%的患者接受抗生素维持治疗，53%接受抗真菌预防治疗。33%的患者接受了γ-干扰素治疗。24例患者（6%）接受了干细胞移植。主要死亡原因为肺炎和肺脓肿（18/84例）、败血症（16/84例）和脑脓肿（4/84例）。这些数据为欧洲CGD的临床过程提供了进一步的见解，并有望有助于提高对这些患者的认识和优化治疗。
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.
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影响因子：
1.8
作者：
Soler-Palacin, P.;Margareto, C.;Espanol, T.
通讯作者：
Espanol, T.
影响因子：
3.6
作者：
Lee, Pamela P. W.;Chan, Koon-Wing;Lau, Yu-Lung
通讯作者：
Lau, Yu-Lung
影响因子：
5.1
作者：
Liese, J;Kloos, S;Belobradsky, BH
通讯作者：
Belobradsky, BH
影响因子：
2.2
作者：
Richardson, MP;Ayliffe, MJ;Davies, EG
通讯作者：
Davies, EG
影响因子：
4.6
作者：
Cale, C. M.;Morton, L.;Goldblatt, D.
通讯作者：
Goldblatt, D.