中华眼底病杂志

中华眼底病杂志

Alport综合征儿童患者黄斑颞侧视网膜厚度薄变及其诊断意义

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目的观察Alport综合征(AS)儿童患者黄斑颞侧视网膜厚度变化,初步探讨其辅助诊断AS的效能。方法2016年1月至2017年7月在北京大学第一医院眼科就诊的AS患儿81例81只眼纳入研究。其中,男性67例67只眼,女性14例14只眼;均为右眼。年龄3~17岁,平均年龄9.6岁。X连锁遗传AS(XLAS)64例,其中男性53例,女性11例;常染色体隐性遗传AS(ARAS)17例,其中男性14例,女性3例。据此分为XLAS组、ARAS组。选取100名年龄<18岁的正常儿童OCT检查结果作为对照组。患儿均行视力、散瞳后裂隙灯显微镜、眼底彩色照相、OCT检查。采用德国Heidelberg公司Spectralis OCT仪测量黄斑中心凹颞内侧(T1)、颞外侧(T2)、鼻内侧(N1)、鼻外侧(N2)的视网膜厚度,计算颞侧薄变指数(TTI)。各组受检眼TTI值比较行单因素方差分析或独立样本t检验;受试者工作特征(ROC)曲线评估TTI在AS中的诊断效能。结果对照组、XLAS组、ARAS组受检眼平均TTI值分别为6.46±1.58、10.93±3.77、12.14±4.05。与对照组不同性别者受检眼比较,XLAS组、ARAS组男性受检眼TTI值更大,差异有统计学意义(F=45.056,P<0.001、<0.001);ARAS组女性受检眼TTI值增大,差异有统计学意义(F=26.541,P<0.001)。XLAS组、ARAS组女性受检眼TTI值比较,差异有统计学意义(F=26.541,P<0.001)。ROC曲线分析结果显示,在男性受检眼中,TTI辅助诊断AS的ROC曲线下面积为0.896,95%CI 0.837~0.955,P<0.001。最佳诊断临界值为9.47,灵敏度为73.1%,特异性100.0%。结论与正常儿童比较,AS患儿黄斑颞侧视网膜厚度变薄。男性患儿TTI>9.47可能有助于辅助诊断AS。

ObjectiveTo observe the features of temporal macular thinning and its value for the diagnosis of Alport syndrome (AS) in young patients.MethodsEighty-one young patients with AS (81 eyes) from Peking University First Hospital during January 2016 and July 2017 were included in this study. There were 67 males (67 eyes) and 14 females (14 eyes),the aged from 3 to 17 years, with the mean age of 9.6 years. Among 81 patients (81 eyes), there were 64 patients with X-linked AS (XLAS, including 53 males and 11 females), 17 patients with autosomal recessive AS (ARAS, including 14 males and 3 females). One hundred healthy subjects aged 4 to 17 years were included as controls. Clinical data were retrospectively evaluated, including visual acuity, slit-lamp microscopy, dilated fundus photography, and OCT. Retinal thickness was measured with an OCT scan and the temporal thinning index (TTI) was calculated as stated in a previous study. The TTI values of each group was compared by One-way ANOVA or independent sample t test. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic effectiveness for AS.ResultsThe TTI of the control group, XLAS and ARAS patients were 6.46±1.58, 10.93±3.77, 12.14±4.05, respectively. Compared with the control group, the TTI value of males were larger in the XLAS and ARAS group (F=45.056, P<0.001), the TTI value of females were larger in the ARAS group (F=26.541, P<0.001). The difference of TTI value in females was significant between the XLAS and ARAS groups (F=26.541, P<0.001). In males, the area under the ROC curve was 0.896 (95%CI 0.837−0.955, P<0.001). The optimal cutoff value of the TTI was determined as 9.47, with a sensitivity of 73.1% and a specificity of 100%.ConclusionsTTI is a common ocular finding in young patients with AS. In males, a TTI > 9.47 may differentiate AS from normal males.

关键词: 肾炎,遗传性; 体层摄影术,光学相干; 黄斑颞侧视网膜厚度薄变

Key words: Nephritis, hereditary; Tomography, optical coherence; Temporal macular thinning

引用本文: 赵亮, 朱瑞琳, 姚旭阳, 谢佳, 张琰琴, 王芳, 丁洁, 杨柳. Alport综合征儿童患者黄斑颞侧视网膜厚度薄变及其诊断意义. 中华眼底病杂志, 2019, 35(2): 176-180. doi: 10.3760/cma.j.issn.1005-1015.2019.02.013 复制

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