Cystic renal disease and cardiovascular anomalies.
Cystic renal disease and cardiovascular anomalies.
复制标题
囊性肾病和心血管异常。
DOI：
10.1002/ajmg.1320330322
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
L. Stranc
中科院分区：
文献类型：
--
作者：
J. Evans;L. Stranc
肾囊肿是一种相对常见但异质性的疾病，越来越多地被产前诊断出来。预后取决于囊性疾病的类型、受累程度和有无其他异常。Czeizel （American Journal Medical Genetics[增刊]2:17-21,1986）指出囊性肾与心血管畸形存在关联。为了进一步调查这一点，在1979年至1983年出生的马尼托巴儿童中进行了一项基于人群的肾囊肿和相关异常研究。共有46名患有肾囊肿的儿童从多个来源被确定（每1,824名新生儿中有1名）。最常见的类型是多囊性发育不良（1/3,226）、下尿路梗阻引起的囊性发育不良（1/13,932）和婴儿多囊肾病（1/20,973）。72%的病例有其他异常，33%有心血管异常。另有11%的患者有动脉导管未闭或单脐动脉。在出生队列中，除动脉导管未闭或单脐动脉外的心血管缺陷发生率为1/174，我们的数据证实肾囊肿与畸形儿童心血管缺陷有很强的相关性（P < 0.001）。心脏缺陷与单侧多囊发育不良的关联尤为重要。在确定患有单侧发育不良的14名儿童中，4名（28%）有严重心脏缺陷，导致所有病例的早期死亡。4个中只有一个有额外的缺陷。单侧多囊发育不良伴对侧肾脏正常通常预后良好。（摘要删节250字）
Renal cysts are a relatively common but heterogeneous group of disorders that are increasingly being diagnosed prenatally. Prognosis depends on the type of cystic disease, extent of involvement, and the presence or absence of other anomalies. Czeizel (American Journal of Medical Genetics [Supplement] 2:17-21, 1986) indicated that a cystic kidney-cardiovascular malformation association exists. To investigate this further a population based study of renal cysts and associated anomalies in Manitoba children born between 1979 and 1983 was carried out. A total of 46 children with renal cysts were identified from multiple sources (1 per 1,824 total births). The most common types were multicystic dysplasia (1/3,226), cystic dysplasia due to lower urinary tract obstruction (1/13,932), and infantile polycystic kidney disease (1/20,973). Other anomalies were seen in 72% of cases and 33% had cardiovascular anomalies. A further 11% had patent ductus arteriosus or single umbilical artery. The incidence of cardiovascular defects excluding patent ductus arteriosus or single umbilical artery was 1/174 in the total birth cohort and our data confirmed a strong association of renal cysts with cardiovascular defects in children with malformations (P less than 0.001). The association of cardiac defects with unilateral multicystic dysplasia is especially important. Of the 14 children ascertained with unilateral dysplasia, 4 (28%) had major cardiac defects leading to early death in all instances. Only one of the 4 had additional defects. Unilateral multicystic dysplasia with a normal contralateral kidney usually has a good prognosis.(ABSTRACT TRUNCATED AT 250 WORDS)