ROP的流行病学调查及Wnt信号通路相关基因研究

发布时间：2018-03-17 23:11

  本文选题：早产儿视网膜病变　切入点：筛查标准　出处：《上海交通大学》2014年博士论文　论文类型：学位论文

【摘要】：目的：调查分析我国上海地区早产儿视网膜病变（ROP）的发病率，评估我国现行ROP筛查标准的有效性，并探讨适合上海地区ROP的筛查标准；分析各种危险因素与ROP发生的相关性；评估遗传因素在ROP发生中可能起到的作用。 方法：以新生儿重症监护室收治的早产儿人群为基础的前瞻性研究。对2010年1月至2012年12月上海两家三级甲等医院NICU中符合筛查标准的早产儿进行眼底检查。按照ETROP治疗组推荐方案进行治疗。对所有入选本研究的早产儿其围产期和新生儿期的全身情况进行评估并详细记录，根据眼底检查和治疗结果将早产儿分为无ROP组、轻度ROP组和重度ROP组。用SPSS软件对危险因素与ROP的相关性进行统计学分析，以P0.05作为差异有统计学意义。选取重度ROP患儿96例及出生体重孕周等条件与之相匹配的早产儿作为对照组，抽取全血提取DNA，运用一代测序法检测NDP、FZD4、LRP5和TSPAN12这四个基因。 结果：3014例早产儿中共有2825例患儿（93.7%）完成了眼底筛查。有503例（17.8%）患儿诊断为ROP，他们的平均孕周为29.9±2.1周，，平均出生体重为1425±266克。有191例患儿（6.8%）因患阈值前1型病变或更严重的病变而接受激光或玻璃体手术治疗。在接受治疗的患儿中，有18例患儿（9.4%）在英国ROP筛查标准之外，有28例患儿（14.7%）在美国筛查标准之外。如果我们将筛查标准缩小到出生时孕周≤34w和/或出生体重≤1750g，将有16.3%的患儿无需进行检查且不会遗漏任何一例需要进行治疗的患者。ROP的发生与孕周小、出生体重低、多胎、机械通气和脑室内出血相关。共发现2个错义突变和3个同义突变分别位于FZD4（p.G530E）和LRP5（p.A1330V, c.3375GA, c.4089CT和c.3600CT），未发现NDP和TSPAN12基因突变。 结论：上海地区ROP发病率与其它经济发达地区报道的数据相近。与西方发达国家相比，我国ROP的患儿出生体重相对较重，出生时孕周相对较高。早产、低出生体重、多胎、机械通气及脑室内出血是ROP发病的独立高危因素。ROP患者中发现有Wnt信号通路相关基因的突变提示遗传因素在重度ROP的发生中起一定的作用。
[Abstract]:Objective: to investigate and analyze the incidence of retinopathy of preterm infants in Shanghai, to evaluate the effectiveness of current ROP screening criteria in China, to explore the screening criteria suitable for ROP in Shanghai, and to analyze the correlation between various risk factors and the occurrence of ROP. To evaluate the possible role of genetic factors in the development of ROP. Methods: based on a prospective study of premature infants admitted in neonatal intensive care unit (NICU), fundus examinations were performed on premature infants who met the screening criteria in NICU from January 2010 to December 2012 in two Grade 3A hospitals in Shanghai. All preterm infants enrolled in this study were evaluated and recorded in terms of their perinatal and neonatal systemic conditions, as recommended by the ETROP treatment group. According to the results of fundus examination and treatment, premature infants were divided into three groups: no ROP group, mild ROP group and severe ROP group. The correlation between risk factors and ROP was statistically analyzed by SPSS software. 96 premature infants with severe ROP and their birth weight and gestational weeks were selected as control group, the whole blood was extracted to extract DNA, and the four genes of NDPfZD4LRP5 and TSPAN12 were detected by a generation sequencing method. Results the fundus screening was completed in 2825 out of 2825 premature infants. 503 patients were diagnosed as ROP.The average gestational weeks were 29.9 卤2.1 weeks. The average birth weight was 1425 卤266g. 191 children (6.8g) received laser or vitreous surgery for the first type of threshold disease or more. Among the children receiving treatment, 18 children (9.4g) were in addition to the British ROP screening criteria. If we reduce the screening criteria to less than 34w at birth and / or birth weight 鈮

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