Chronic granulomatous disease in pediatric patients:: 25 years of experience
Chronic granulomatous disease in pediatric patients:: 25 years of experience
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DOI：
10.1157/13106774
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发表时间：
2007-05-01
影响因子：
1.8
通讯作者：
Espanol, T.
中科院分区：
文献类型：
--
作者：
Soler-Palacin, P.;Margareto, C.;Espanol, T.
前言：慢性肉芽肿病(CGD)是一种罕见的原发免疫缺陷疾病，由氧代谢产物的吞噬细胞产生缺陷引起，由过氧化氢酶阳性微生物产生的细菌感染和真菌疾病引起，有时甚至被证明是致命的。方法：回顾1980-2005年间确诊的13例儿童CGD的临床资料。确诊时的平均年龄为36个月。诊断时的临床表现包括：脓肿或脓肿性腺病4/13(金黄色葡萄球菌2)，液化沙雷氏菌、粘质沙雷氏菌和克雷伯氏菌)，肺炎3/13(马红球菌、鼠伤寒沙门氏菌和肺炎孢子菌)，骨髓炎1/13(曲霉菌属)，败血症1/13(金黄色葡萄球菌)，尿路感染1/13(克雷伯氏菌属)，严重胃肠炎1/13，口腔口疮1/13和克罗恩样炎症性肠病1/13。病程中感染88例：脓肿26例，淋巴结炎12例，肺炎10例，胃肠炎7例，脓毒症6例，骨髓炎3例，其他24例。分离的细菌频率分布如下(n=49)：曲霉属(Aspergillussp.)(n=10)，葡萄球菌属。(n=7)，沙门氏菌属。(n=6)，沙雷氏菌属。5株，铜绿假单胞菌4株，克雷伯氏菌属。(n=4)，变形杆菌(Proteus sp.)(n=3)，利什曼原虫。2例，其他8例。干扰素-γ治疗7例，伊曲康唑治疗9/13例，均采用复方新诺明治疗。死亡4例，其中革兰氏阴性菌感染所致败血症1例，播散性曲霉菌感染1例，内脏利什曼病、吞血症、肾移植术后并发症各1例。结论：临床怀疑和流式细胞术是诊断CGD和发现携带者亲属的关键。需要采取具体的预防措施和医疗控制措施，以防止严重感染。干扰素-γ一直被间歇性使用，尽管其有效性存在争议。
Introduction: Chronic granulomatous disease (CGD) is an uncommon primary immune deficiency (affecting 1/200,000 newborn infants) caused by a defect in phagocyte production of oxygen metabolites, and resulting in bacterial infections produced by catalase-positive microorganisms and fungal diseases that occasionally may prove fatal.Methods: A review is made of the clinical records of 13 pediatric patients diagnosed with CGD between 1980 and 2005.Results: All patients were males. The mean age at diagnosis was 36 months. The clinical manifestations at the time of diagnosis comprised the following: Abscesses or abscessified adenopathies 4/13 (Staphylococcus aureus (2), Serratia liquefaciens, S. marcescens and Klebsiella sp.), pneumonia 3/13 (Rhodococcus equi, Salmonella typhimurium plus Pneumocystis jirovecl), osteomyelitis 1/13 (Aspergillus SP.), sepsis 1/13 (S. aureus), urinary infection 1/13 (Klebsiella sp.), severe gastroenteritis 1/13, oral aphthae 1/13 and Crohn-like inflammatory bowel disease 1/13. The diagnosis was initially established by the nitroblue tetrazolium test, and confirmed by flow cytometry 10/13 and genetic techniques (gp91) 9/13. In the course of these disease processes there were 88 infections: abscesses (n = 26), lymphadenitis (n = 12), pneumoniae (n = 10), gastroenteritis (n = 7), sepsis (n = 6), osteomyelitis (n = 3) and others (n = 24). As to the germs isolated, the frequency distribution was as follows (n = 49): Aspergillus sp. (n = 10), Staphylococcus sp. (n = 7), Salmonella sp. (n = 6), Serratia sp. (n = 5), Pseudomonas aeruginosa (n = 4), Klebsiella sp. (n = 4), Proteus sp. (n = 3), Leishmania sp. (n = 2) and others (n = 8). IFN-gamma was administered in 7/13 cases, and itraconazole in 9/13; all received cotrimoxazole. There were four deaths, with one case each of sepsis due to gramnegative bacterial infection; disseminated aspergillosis; visceral leishmaniasis and hemophagocytosis; and post-kidney transplant complications.Conclusions: Clinical suspicion and flow cytometry are the keys for diagnosis of CGD and detection of carrier relatives. Specific prophylactic measures and medical controls are required to prevent serious infections. IFN-gamma has been used intermittently, though its effectiveness is controversial.