Gao Yuyang, Xu Wenli, Li Wenyan, Chen Zhiyu, Li Qi, Liu Zhen, Dai Li
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, No.17 Section 3 Renminnanlu, Chengdu, Sichuan, 610041, China.
The Joint Laboratory for Pulmonary Development and Related Diseases, West China Second University Hospital, West China Institute of Women and Children's Health, Sichuan University, Chengdu, Sichuan, China.
BMC Pregnancy Childbirth. 2025 Jul 2;25(1):689. doi: 10.1186/s12884-025-07807-6.
Renal agenesis (RA), a rare congenital kidney defect, varies in clinical severity. Unilateral renal agenesis (URA) is more prevalent and may cause long-term renal complications, whereas bilateral renal agenesis (BRA) is typically fatal. While epidemiological data on RA is limited in China, understanding its prevalence and associated factors is crucial for public health interventions.
We conducted a prevalence analysis using data from the Chinese Birth Defects Monitoring Network between 2007 and 2020. Prevalence rates of RA, URA, and BRA were calculated and stratified by birth year, maternal age, residence area, geographical region, and infant sex. Temporal trends in prevalence were examined. We also investigated pregnancy outcomes among affected infants, including preterm births, low birth weight, early neonatal deaths, and termination of pregnancy for fetal anomaly (TOPFA). Furthermore, co-occurring congenital anomalies were assessed. Poisson regression analysis was used to assess the distribution of URA and BRA across residential areas and geographic regions and to identify factors associated with their prevalence.
Among 25,909,000 births between 2007 and 2020, a total of 5,906 cases of RA were identified (5,020 URA and 780 BRA). The prevalence rates per 10,000 live and still births were 2.28 for RA, 1.94 for URA, and 0.30 for BRA, all showing an increasing trend over the study period. Compared to URA, BRA was significantly associated with a higher proportion of preterm birth, low birth weight, early neonatal death, and TOPFA. Poisson regression analysis revealed a consistent distribution of URA and BRA across residential areas and geographic regions, with higher prevalence observed in urban areas and the eastern and central regions of China. Maternal age < 35 years and female sex were associated with a higher prevalence of URA, while male sex was associated with a higher prevalence of BRA. Both URA and BRA frequently co-occurred with congenital malformations of the circulatory, urinary, and musculoskeletal systems.
The study provides the first comprehensive epidemiological assessment of RA in China. The increasing prevalence and distinct differences in the pregnancy outcomes between URA and BRA underscore the importance of timely prenatal diagnosis and appropriate counseling for affected families.
肾缺如(RA)是一种罕见的先天性肾脏缺陷,临床严重程度各异。单侧肾缺如(URA)更为常见,可能导致长期肾脏并发症,而双侧肾缺如(BRA)通常是致命的。虽然中国关于RA的流行病学数据有限,但了解其患病率及相关因素对于公共卫生干预至关重要。
我们利用2007年至2020年中国出生缺陷监测网络的数据进行了患病率分析。计算了RA、URA和BRA的患病率,并按出生年份、产妇年龄、居住地区、地理区域和婴儿性别进行分层。研究了患病率的时间趋势。我们还调查了受影响婴儿的妊娠结局,包括早产、低出生体重、早期新生儿死亡以及因胎儿畸形而终止妊娠(TOPFA)。此外,评估了同时存在的先天性异常。采用泊松回归分析评估URA和BRA在居住地区和地理区域的分布,并确定与它们患病率相关的因素。
在2007年至2020年的2590.9万例出生中,共确诊5906例RA(5020例URA和780例BRA)。每10000例活产和死产中RA的患病率为2.28,URA为1.94,BRA为0.30,在研究期间均呈上升趋势。与URA相比,BRA与早产、低出生体重、早期新生儿死亡和TOPFA的比例显著更高相关。泊松回归分析显示URA和BRA在居住地区和地理区域分布一致,在中国城市地区以及东部和中部地区患病率较高。产妇年龄<35岁和女性与URA的患病率较高相关,而男性与BRA的患病率较高相关。URA和BRA均经常与循环、泌尿和肌肉骨骼系统的先天性畸形同时出现。
该研究提供了中国首次对RA的全面流行病学评估。URA和BRA患病率的上升以及妊娠结局的明显差异凸显了及时进行产前诊断和为受影响家庭提供适当咨询的重要性。