Scott J E, Swallow V, Coulthard M G, Lambert H J, Lee R E
Northern Maternity Survey Office, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Lancet. 1997 Aug 9;350(9075):396-400. doi: 10.1016/s0140-6736(97)01515-8.
Vesicoureteric reflux (VUR) is not usually diagnosed until it is complicated by urinary infection. Prevention probably requires diagnosis in a newborn baby before urinary infection occurs because the peak incidence for infection is in early infancy. VUR is a familial disorder. We sought to find out whether an at-risk group of newborn babies could be identified on the basis of the parents' family history.
Over a 3-year period, pregnant women attending the antenatal clinics of three hospitals in the northeast of England were screened for evidence of urinary-tract disease in themselves or their families with a view to eliciting a history of VUR. When a woman, her partner, or a member of either family had a definite (by cystography records) or probable positive history, we recruited the mother to our study. Renal ultrasonography and cystography were done on the newborn babies soon after delivery, and a dimercaptosuccinic acid (DMSA) radioisotope scan at 3 months was done on those with VUR.
The estimated number of deliveries during the study period was 34,555; 20,891 women were screened; and 211 were recruited and delivered. The index cases were identified from a wide range of family relationships, though over half consisted of mothers and siblings, 19 babies had more than one index case and in 21 families there was one index for more than one baby or a link between families. Cystography was carried out on 186 newborn babies; 38 (20.4%) had VUR. The proportion of newborn babies with VUR among linked index families was 31%. Mothers and siblings amounted to 71% of the index cases for newborn babies with VUR. The difference between confirmed and assumed index cases in VUR prediction was not significant. The female/male sex ratio among index cases was more than 4, but among newborn babies with VUR it was 1.5. Renal ultrasound showed no correlation with VUR, and all DMSA scans but one were normal. No newborn baby developed complications resulting from cystography.
The screening of pregnant women for familial VUR is worthwhile because the frequency of VUR among the newborn babies of those with such a history is significantly higher than in the general population (frequency of VUR 1-2%), particularly if the family history involves more than one member, or more than one generation.
膀胱输尿管反流（VUR）通常在并发泌尿系统感染后才得以诊断。由于感染的高发期在婴儿早期，预防VUR可能需要在新生儿发生泌尿系统感染之前进行诊断。VUR是一种家族性疾病。我们试图弄清楚是否可以根据父母的家族病史来识别有风险的新生儿群体。
在3年的时间里，对在英格兰东北部三家医院产前门诊就诊的孕妇进行筛查，以了解她们自身或其家族中是否有泌尿系统疾病的证据，从而获取VUR病史。当一名女性、其伴侣或任何一方家族中的成员有明确的（通过膀胱造影记录）或可能的阳性病史时，我们将这位母亲纳入研究。新生儿在出生后不久即进行肾脏超声检查和膀胱造影，对患有VUR的新生儿在3个月时进行二巯基丁二酸（DMSA）放射性核素扫描。
研究期间估计分娩数为34555例；筛查了20891名女性；211名被招募并分娩。索引病例来自广泛的家族关系，尽管超过一半是母亲和兄弟姐妹，19名婴儿有不止一个索引病例，21个家庭中有一个索引涉及不止一个婴儿或家族之间存在联系。对186名新生儿进行了膀胱造影；38例（20.4%）患有VUR。在有联系的索引家族中，患有VUR的新生儿比例为31%。母亲和兄弟姐妹占患有VUR的新生儿索引病例的71%。在VUR预测中，确诊索引病例和假定索引病例之间的差异不显著。索引病例中的女性/男性比例超过4，但在患有VUR的新生儿中为1.5。肾脏超声检查显示与VUR无相关性，除一例之外所有DMSA扫描结果均正常。没有新生儿因膀胱造影而出现并发症。
对孕妇进行家族性VUR筛查是值得的，因为有此类病史的孕妇所生新生儿中VUR的发生率明显高于一般人群（VUR发生率为1-2%），特别是如果家族病史涉及不止一名成员或不止一代。
