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目的通过分析北京市2008年-2014年先天性肾脏畸形监测资料,了解北京市先天性肾脏畸形的发生与诊断情况,为先天性肾脏畸形的防控提供相关信息及依据。方法运用描述性统计学分析方法回顾性分析近7年北京市140余万胎婴儿出生缺陷监测资料。结果北京市先天性肾脏畸形发病率1.25‰,其中,单发肾脏畸形、多发肾脏畸形、合并其他出生缺陷的肾脏畸形构成比分别为75.47%、5.39%、19.48%;预后差的肾脏畸形包括严重致死性肾脏畸形、肾脏畸形合并染色体异常、综合征构成比分别为8.35%、1.65%、0.34%;单发肾脏畸形发生顺位前三位为肾积水(0.30‰)、多囊肾(0.19‰)和肾缺如(0.18‰);肾脏畸形合并染色体异常以三体型为主,21三体>18三体>13三体。结论随着缺陷谱变化,先天性肾脏畸形已成为常见出生缺陷,应加强监测;加强对患儿肾外畸形的排查、病因学检查及肾脏畸形相关综合征的识别。
Objective To analyze congenital renal malformations in Beijing from 2008 to 2014 to understand the occurrence and diagnosis of congenital renal malformations in Beijing and to provide relevant information and basis for the prevention and control of congenital renal malformations. Methods Descriptive statistics were used to analyze the surveillance data of birth defects in more than 1.4 million infants in Beijing in the recent 7 years. Results The incidence of congenital kidney malformation in Beijing was 1.25 ‰. The malformation rates of single kidney malformations, multiple kidney malformations and other birth defects were 75.47%, 5.39% and 19.48%, respectively. The poor prognosis of renal malformations included severe The proportions of fatal kidney malformations, kidney malformations and chromosomal abnormalities were 8.35%, 1.65% and 0.34%, respectively. The top three cases of single kidney malformation were hydronephrosis (0.30 ‰), polycystic kidney (0.19% ‰) and kidney deficiency (0.18 ‰). The abnormality of the kidney combined with chromosomal abnormality mainly in trisomy 21 trisomy 18 trisomy 13 trisomy. Conclusion With the change of defect spectrum, congenital renal malformation has become a common birth defects, should be strengthened monitoring; to strengthen the investigation of children with extra-renal deformities, etiology and renal malformation-related syndromes.