Moore D, Tudehope D, Lewis B, Masel J
Aust Paediatr J. 1987 Apr;23(2):137-41. doi: 10.1111/j.1440-1754.1987.tb02194.x.
Thirty-four families of index cases with the oligohydramnios tetrad secondary to renal agenesis/dysgenesis were screened for renal abnormalities using Real Time ultrasonography. The index cases were separated into two groups. Group 1 consisted of cases of perinatally lethal renal disease and Group 2 of cases of renal dysgenesis secondary to the urethral obstruction malformation. Renal ultrasound screenings of 23 families in Group 1 demonstrated two previously unidentified cases of unilateral renal agenesis in siblings. Screening of 11 families in Group 2 revealed one sibling with a hydronephrotic kidney and one parent with an ectopic pelvic kidney. There is a recurrence risk of 3.5-5% in families with perinatal lethal renal disease and an increased risk of silent renal anomalies in first degree family members. The recurrence risk is low in families of infants with renal dysgenesis secondary to the urethral obstruction malformation, but immediate family members are at increased risk of structural and functional urinary anomalies. Routine renal ultrasound screening of first degree relatives of infants with lethal renal agenesis and dysgenesis is recommended.
对34例因肾发育不全/发育异常导致羊水过少四联症的先证者家庭，使用实时超声检查筛查肾脏异常情况。先证者被分为两组。第1组包括围产期致死性肾病病例，第2组包括尿道梗阻畸形继发的肾发育不全病例。第1组23个家庭的肾脏超声筛查显示，同胞中有2例先前未被发现的单侧肾发育不全病例。第2组11个家庭的筛查发现，1名同胞患有肾积水，1名父母患有盆腔异位肾。围产期致死性肾病家庭的复发风险为3.5%-5%，一级家庭成员中隐匿性肾脏异常风险增加。尿道梗阻畸形继发肾发育不全婴儿家庭的复发风险较低，但直系亲属出现泌尿系统结构和功能异常的风险增加。建议对致死性肾发育不全和发育异常婴儿的一级亲属进行常规肾脏超声筛查。
