Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, 10 Center Dr., 10/10N103, NIH/NEI, Bethesda, MD 20892-1857, USA.
J Clin Immunol. 2013 Jul;33(5):917-24. doi: 10.1007/s10875-013-9899-9. Epub 2013 May 1.
Chronic granulomatous disease (CGD) is an inherited disorder characterized by defects in phagocyte-derived nicotinamide adenine dinucleotide phosphate oxidase. It is typically diagnosed in childhood and leads to severe, recurrent bacterial or fungal infections. Chorioretinal lesions are the most common ocular manifestation. We sought to determine whether there are infectious agents in CGD-associated chorioretinopathy.
Medical records and ocular histopathology from CGD cases from January 1983 to January 2012 at the National Institutes of Health were retrospectively reviewed. Chorioretinal cells from normal and lesional tissues of the same eye were microdissected. Primers for Staphylococcus epidermidis, Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia sp., and a panbacterial 16S ribosomal DNA were used for polymerase chain reaction.
Seventeen CGD patients had ocular tissues (16 autopsied cases and 1 chorioretinal biopsy) examined. Of these 17, 8 demonstrated CGD-associated chorioretinal lesions in at least one eye on histopathology. Of these 8, 7 showed amplification of 16S ribosomal DNA within the lesion; of these 7, two also amplified S. epidermidis and one P. aeruginosa. One had no bacterial DNA amplified. Importantly, no microbial DNA was amplified from the normal, non-lesional ocular tissues of these 8 cases. Furthermore, only 1 of the 9 eyes without chorioretinopathy had amplified Burkholderia DNA, that patient had a history of Burkholderia infection.
We detected bacterial DNA in 7 of 8 (88%) cases with CGD-associated chorioretinopathy and only in 1 normal ocular tissue of 17 CGD cases. Bacterial infection may play a role in the pathogenesis of CGD-associated chorioretinal lesions.
慢性肉芽肿病（CGD）是一种遗传性疾病，其特征为吞噬细胞衍生的烟酰胺腺嘌呤二核苷酸磷酸氧化酶缺陷。该病通常在儿童时期被诊断，导致严重、反复的细菌或真菌感染。脉络膜视网膜病变是最常见的眼部表现。我们试图确定 CGD 相关性脉络膜视网膜病变中是否存在感染因子。
回顾性分析了 1983 年 1 月至 2012 年 1 月期间在美国国立卫生研究院（NIH）就诊的 CGD 病例的病历和眼部组织病理学资料。对同一只眼的正常和病变组织的脉络膜视网膜细胞进行显微切割。使用表皮葡萄球菌、金黄色葡萄球菌、铜绿假单胞菌、伯克霍尔德菌属和泛细菌 16S 核糖体 DNA 的引物进行聚合酶链反应。
17 例 CGD 患者的眼部组织（16 例尸检病例和 1 例脉络膜视网膜活检）接受了检查。在这 17 例患者中，有 8 例至少有一只眼在组织病理学上表现出 CGD 相关性脉络膜视网膜病变。在这 8 例中，有 7 例病变部位扩增出 16S 核糖体 DNA；其中 7 例中有 2 例扩增出表皮葡萄球菌，1 例扩增出铜绿假单胞菌。1 例未扩增出细菌 DNA。重要的是，这 8 例患者的正常、非病变眼部组织均未扩增出微生物 DNA。此外，在 9 只无脉络膜视网膜病变的眼中，仅有 1 只扩增出伯克霍尔德菌 DNA，该患者有伯克霍尔德菌感染史。
我们在 8 例（88%）CGD 相关性脉络膜视网膜病变患者的 7 例中检测到细菌 DNA，而在 17 例 CGD 病例的 17 例正常眼部组织中仅 1 例检测到细菌 DNA。细菌感染可能在 CGD 相关性脉络膜视网膜病变的发病机制中起作用。
