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ROP的流行病學調查及Wnt信號通路相關基因研究

發(fā)布時間:2018-03-17 23:11

  本文選題:早產兒視網膜病變 切入點:篩查標準 出處:《上海交通大學》2014年博士論文 論文類型:學位論文


【摘要】:目的:調查分析我國上海地區(qū)早產兒視網膜病變(ROP)的發(fā)病率,評估我國現行ROP篩查標準的有效性,并探討適合上海地區(qū)ROP的篩查標準;分析各種危險因素與ROP發(fā)生的相關性;評估遺傳因素在ROP發(fā)生中可能起到的作用。 方法:以新生兒重癥監(jiān)護室收治的早產兒人群為基礎的前瞻性研究。對2010年1月至2012年12月上海兩家三級甲等醫(yī)院NICU中符合篩查標準的早產兒進行眼底檢查。按照ETROP治療組推薦方案進行治療。對所有入選本研究的早產兒其圍產期和新生兒期的全身情況進行評估并詳細記錄,根據眼底檢查和治療結果將早產兒分為無ROP組、輕度ROP組和重度ROP組。用SPSS軟件對危險因素與ROP的相關性進行統計學分析,以P0.05作為差異有統計學意義。選取重度ROP患兒96例及出生體重孕周等條件與之相匹配的早產兒作為對照組,抽取全血提取DNA,運用一代測序法檢測NDP、FZD4、LRP5和TSPAN12這四個基因。 結果:3014例早產兒中共有2825例患兒(93.7%)完成了眼底篩查。有503例(17.8%)患兒診斷為ROP,他們的平均孕周為29.9±2.1周,,平均出生體重為1425±266克。有191例患兒(6.8%)因患閾值前1型病變或更嚴重的病變而接受激光或玻璃體手術治療。在接受治療的患兒中,有18例患兒(9.4%)在英國ROP篩查標準之外,有28例患兒(14.7%)在美國篩查標準之外。如果我們將篩查標準縮小到出生時孕周≤34w和/或出生體重≤1750g,將有16.3%的患兒無需進行檢查且不會遺漏任何一例需要進行治療的患者。ROP的發(fā)生與孕周小、出生體重低、多胎、機械通氣和腦室內出血相關。共發(fā)現2個錯義突變和3個同義突變分別位于FZD4(p.G530E)和LRP5(p.A1330V, c.3375GA, c.4089CT和c.3600CT),未發(fā)現NDP和TSPAN12基因突變。 結論:上海地區(qū)ROP發(fā)病率與其它經濟發(fā)達地區(qū)報道的數據相近。與西方發(fā)達國家相比,我國ROP的患兒出生體重相對較重,出生時孕周相對較高。早產、低出生體重、多胎、機械通氣及腦室內出血是ROP發(fā)病的獨立高危因素。ROP患者中發(fā)現有Wnt信號通路相關基因的突變提示遺傳因素在重度ROP的發(fā)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 鹵2.1 weeks. The average birth weight was 1425 鹵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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