Kobayashi Shinichi, Murayama Shizuko, Takanashi Sayaka, Takahashi Kumiko, Miyatsuka Sachiko, Fujita Tomoko, Ichinohe Sadato, Koike Yuichi, Kohagizawa Toshitaka, Mori Hirosumi, Deguchi Yasushi, Higuchi Kaoru, Wakasugi Hiroaki, Sato Tatsuya, Wada Yasuyuki, Nagata Masato, Okabe Nobuhiko, Tatsuzawa Osamu
National Center for Child Health and Development, Division of Rheumatology and Infectious Diseases, 2-10-1, Ookura, Setagaya-ku, Tokyo, Japan.
Eur J Pediatr. 2008 Dec;167(12):1389-94. doi: 10.1007/s00431-008-0680-7. Epub 2008 Mar 12.
In this paper, we examined the details of severe infections, treatment efficacies, and the prognoses of 23 Japanese patients with chronic granulomatous disease (CGD). We described the mean ages at diagnosis and follow-up, which were 2.8 years (range, 0.7-10 years) and 14.9 years (range, 0.2-28.4 years), respectively. There were three deaths, two from Aspergillus pneumonia and one from liver abscess. Eighteen of the 23 patients (78%) had a complete loss of gp91phox, and three had p22-phox and one had p67phox deficiencies. Aspergillus species were found in 45% of 174 severe infections. The mean height and weight of the 20 surviving patients were -0.8 +/- 1.3SD and -1.9 +/- 1.9SD below the means for age, respectively. Short stature and underweight (below the 10th percentile of the means) for age were seen in 22% and 17% of the patients, respectively. This growth retardation reflects the severity of the disease. At 20 years of age, there was 87% survival. Ongoing prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMX) or antifungal drugs was given in 16 and 11 patients, respectively. Interferon-gamma (IFN-gamma) was given once a week to 14 patients. Four patients underwent hematopoietic stem cell transplantation (HSCT) and are currently well. There were infections observed in three of 21 identified related carriers of X-linked CGD. A carrier with a liver abscess had 5% normal neutrophils during the acute phase of infection, which returned to 40% normal neutrophils after recovery. The high survival rate in this hospital results from regular follow-up and prophylaxis with TMP-SMX and anti-fungal drugs beginning at the time of diagnosis, along with treatment with weekly IFN-gamma.
在本文中，我们研究了23例日本慢性肉芽肿病（CGD）患者的严重感染细节、治疗效果及预后。我们描述了诊断时和随访时的平均年龄，分别为2.8岁（范围0.7 - 10岁）和14.9岁（范围0.2 - 28.4岁）。有3例死亡，2例死于曲霉菌性肺炎，1例死于肝脓肿。23例患者中有18例（78%）gp91phox完全缺失，3例存在p22 - phox缺陷，1例存在p67phox缺陷。在174例严重感染中，45%检测到曲霉菌种。20例存活患者的平均身高和体重分别比年龄均值低0.8±1.3标准差和1.9±1.9标准差。分别有22%和17%的患者存在年龄相关的身材矮小和体重过轻（低于均值的第10百分位数）。这种生长发育迟缓反映了疾病的严重程度。20岁时的生存率为87%。分别有16例和11例患者持续接受甲氧苄啶 - 磺胺甲恶唑（TMP - SMX）或抗真菌药物预防治疗。14例患者每周接受一次干扰素 - γ（IFN - γ）治疗。4例患者接受了造血干细胞移植（HSCT），目前情况良好。在21例已确认的X连锁CGD相关携带者中，有3例观察到感染。一名患有肝脓肿的携带者在感染急性期中性粒细胞正常比例为5%，恢复后恢复到40%。该医院的高生存率得益于从诊断时开始的定期随访、TMP - SMX和抗真菌药物预防治疗以及每周一次的IFN - γ治疗。
