儿童X连锁Alport综合征基因突变类型与眼部异常的关系  

Correlation between genotype and ocular abnormalities in young patients with X-linked Alport syndrome

作　　者：赵亮[1] 朱瑞琳[1] 顾枭鹏 张雅娣 张琰琴[2] 王芳[2] 丁洁[2] 杨柳[1] Zhao Liang;Zhu Rui-lin;Gu Xiao-peng(Peking University First Hospital, Department of ophthalmology, Department ofPediatrics, Beijing 100034、China.)

机构地区：[1]北京大学第一医院眼科,100034 [2]北京大学第一医院儿科,100034

出　　处：《中国斜视与小儿眼科杂志》2019年第1期5-9,I0001,共6页Chinese Journal of Strabismus & Pediatric Ophthalmology

基　　金：国家自然科学基金(81470650);国家重点研发计划精准医学研究重点专项课题(2016YFC0901505);儿科遗传性疾病分子诊断与研究北京市重点实验室(BZ0317)

摘　　要：目的分析X连锁Alport综合征儿童患者眼部异常与其基因型之间的关系。方法本研究为回顾性研究,18岁以下的Alport综合征患者53例,根据基因突变分为两组:组1包括发生错义突变的患儿;组2包括无义突变、移码突变、外显子缺失及剪接突变。均行视功能、裂隙灯显微镜、眼底及OCT检查,并根据OCT结果计算视网膜颞侧薄变指数(TTI)。结果 53例患儿中共有16例男性患儿出现黄斑部斑点样视网膜病变,组1和组2患儿发生斑点样视网膜病变的概率无显著性差异(P=0.182)。男性患儿中,组2患者的TTI高于组1,但差异无统计学意义(12.58 vs 11. 66, P=0.473)。女性患者中,两组患儿的TTI无显著性差异(7.31 vs 7. 56,P=0.745)。结论与成人X连锁Alport综合征患者不同,儿童患者基因突变类型与特征性眼部异常之间并未表现出明显的关联。临床工作中,对于即使已经通过基因而检测确诊的XLAS的患儿,并不能根据基因突变情况判断其眼部异常程度,而仍应进行详细的眼部检查及密切随访。Objective To report the correlation of gene mutation and ocular manifestations in young patients with Alport syndrome. Methods This was a retrospective study. Clinical data of fifty-three young patients with X-linked Alport Syndrome(AS) were retrospectively evaluated, including visual acuity, slit-lamp microscopy, dilated fundus photography,and optical coherence tomography(OCT). Retinal thickness was measured with an OCT scan and the temporal thinning index(TTI) was calculated as stated in a previous study. The patients were divided into two groups according to the types of gene mutation: group 1 including patients with missense and splice mutations;group 2 including patients with nonsense, frameshift and deletion mutations. Results There was no significant difference in the incidence of dot-and-fleck retinopathy between group 1 and group 2(P=0. 182). In male patients, TTI of group 2 was higher than that of group 1,but there was no significant difference(12. 58 vs 11. 66, P=0.473). In female patients, there was no significant difference in TTI between two groups(7.31 vs 7.56, P = 0.745).Conclusions Different from adult patients, there was no significant association between the type of gene mutation and ocular abnormalities in young patients with X-linked Alport syndrome. The incidence and severity of ocular abnormalities cannot be estimated according to the type of gene mutation alone, detailed ocular examination and close follow-up is recommended in young patients with X-linked Alport syndrome.

关 键 词：ALPORT综合征 基因突变 黄斑颞侧薄变 

分 类 号：R726.9[医药卫生—儿科] R771.3[医药卫生—临床医学]