Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.
Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.
复制标题
双侧肾发育不全/发育不良婴儿家庭成员的肾脏异常。
DOI：
10.1007/s00467-006-0295-z
复制
发表时间：
2007
期刊：
影响因子：
--
通讯作者：
McBride,KimL
中科院分区：
文献类型：
--
作者：
Schwaderer,AndrewL;Bates,CarltonM;McHugh,KirkM;McBride,KimL
肾发育不全/发育不良是儿童终末期肾病的主要病因。肾发育不全/发育不良的病因尚未确定。本研究的目的是确定肾脏发育不全/发育不良是否具有家族性。经尸检确诊为双侧肾发育不全/发育不良27例，排除4例。男性超过2.8：1，平均妊娠35周。获得了11/23个家系的产前和家族史。在11例妊娠中，有8例发现了潜在的胚胎应激源。来自五个家庭的34名一级和二级亲属参加了肾脏超声检查。双侧肾发育不全/发育不良患者亲属中先天性肾畸形的发生率(14.7%)高于对照组(2.2%)，一级亲属的复发风险为6.2。家庭成员中最常见的肾脏异常是孤立的肾脏和重复的收集系统。在受影响的家庭中，一系列肾脏异常的患病率增加，增加了孤立的肾脏畸形是由不明原因的基因-环境相互作用引起的可能性。
Renal agenesis/adysplasia is the leading etiology of end stage renal disease in children. The etiology for renal agenesis/adysplasia has not been identified. The purpose of the present study was to determine if renal agenesis/adysplasia occur in a familial pattern. Twenty seven cases of bilateral renal agenesis/adysplasia were identified by review of autopsy records, and four were excluded. A male excess of 2.8:1 was noted with a mean gestation of 35 weeks. Prenatal and family histories were obtained on 11/23 families. Potential embryologic stressors were identified in 8/11 pregnancies. Thirty-four 1st and 2nd degree relatives from five families participated in a renal ultrasound exam. An increased prevalence of congenital renal anomalies was identified in the relatives of index patients with bilateral renal agenesis/adysplasia (14.7%) compared to controls (2.2%), with a recurrence risk of 6.2 for 1st degree relatives. The most frequently identified renal anomalies in the family members were solitary kidneys and duplicated collecting systems. The increased prevalence of a range of renal anomalies within affected families raises the possibility that isolated renal malformations result from unidentified gene-environment interactions.