目的 分析平阴县先天性肾脏畸形流行病学特点和分布特征,为防治出生缺陷提供依据。方法 收集平阴县2004-2017年出生缺陷登记资料及出生人口资料,分析发病频率和历年发病趋势,比较不同性别和城乡之间发病频率分布差异,并绘制病例分布地图;描述先天性肾脏畸形的发病顺位、肾脏畸形儿特征以及临床诊断情况。结果 1)肾脏畸形发生率:平阴县2004-2017年先天性肾脏畸形共83例,发生率为17.06/10⁴。男女性别间发病率差异无统计学意义(P>0.05),城乡间发病率差异有统计学意义(P<0.05);发生率位居前三顺位的肾脏畸形是肾畸形(4.93/10⁴)、肾盂积水(4.52/10⁴)与肾缺失(3.50/10⁴)。2)流行病学三间分布特征:平阴县西北部城区附近及东南部平原地区病例分布较集中;不同肾脏畸形存在时间聚集性,肾盂积水和肾畸形发生主要集中在2007年前后,并于2016年后呈明显增加趋势;男性肾盂积水发病率高于女性,而女性肾缺失的发病率高于男性,差异均有统计学意义(P均<0.05)。3)临床特征、诊断与转归 先天性肾脏畸形产前孕28周之前诊断比例为27.71%,应用过超声检查确诊比例为97.59%;双肾缺陷比例为39.76%,单发肾脏畸形比例占83.13%;活产儿占50.60%,死胎死产儿占49.40%。结论 平阴县先天性肾脏畸形发生率明显高于国内其他地区,且存在地区、时间、性别聚集性,提示可能存在区域性危险因素;应加强孕28周产前诊断能力,提高先天性肾脏畸形早期发现率。

Objective To analyze the characteristics of congenital renal malformations(CRMs) cases in Pingyin county by descriptive epidemiology, in order to provide scientific basis for prevention and control of CRMs.Methods The CRMs cases and newborns were collected by birth defects registration data in Pingyin county from 2004 to 2017, and the general characteristics of 83 cases were summarized. The incidence(1/10⁴) was calculated and the difference on CRMs incidence between gender and district area were analyzed. All cases were mapped. The characteristics, diagnostic method and outcome of CRMs were described.Results 1)Incidence of CRMs:There were 83 cases (17.06/10⁴) of CRMs inPingyin county from 2004 to 2017.The difference on the incidence of CRMs between males and females was not statistically significant(P＞0.05),while this difference was significant between urban and rural children(P＜0.05).Renal malformation(4.93/10⁴),congenital hydronephrosis(4.52/10⁴) and renal agenesis(3.50/10⁴) were ranked the top three of CRMs. 2) Epidemiological distribution:Most CRMs cases distributed in the northwestern and southeastern plain area of Pingyin county. The occurrence of hydronephrosis and renal malformation mainly occurred around 2007, and significantly increased in 2016.Also, hydronephrosis mainly appeared in male and most renal agenesis appeard in famale(both P＜0.05).3) Clinical features and diagnosis:The proportion of diagnosis in prenatal 28 weeks of CRMs was 27.71%, and 97.59% of cases were diagnosed by ultrasonography. The proportion of bilateral renal defects was high(39.76%),and most are single malformations(83.13%).The proportions of live births and stillborn baby were 50.60% and 49.40%,respectively.Conclusions The incidence of CRMs in Pingyin county was obviously high compared with other regions in China, and regional, temporal and gender clustering is also found, indicating there may be regional risk factors. It is suggested that prenatal diagnosis competence should be strengthened in order to improve the early detection rate of CRMs in Pingyin county.