Querfeld U, Ortmann M, Vierzig A, Roth B
University Children's Hospital, Cologne, Germany.
J Perinatol. 1996 Nov-Dec;16(6):498-500.
Renal tubular dysgenesis, a congenital disorder of renal tubular development, was diagnosed in two newborns with oligohydramnios and Potter phenotype. Renal tubular dysgenesis (RTD) is a recently recognized congenital disorder of renal tubular development associated with oligohydramnios, Potter phenotype, and neonatal respiratory and renal failure. We report two newborn siblings with typical clinical and anatomic features of RTD. The diagnosis was proven by autopsy in one child. The pediatrician should consider the diagnosis of RTD in a child with congenital anuria and structurally normal kidneys on ultrasound, especially if a maternal history of late trimester oligohydramnios is present.
肾小管发育不全是一种肾小管发育的先天性疾病，在两名患有羊水过少和波特表型的新生儿中被诊断出来。肾小管发育不全（RTD）是一种最近才被认识到的与羊水过少、波特表型以及新生儿呼吸和肾衰竭相关的肾小管发育先天性疾病。我们报告了两名具有典型RTD临床和解剖特征的新生儿同胞。其中一名患儿经尸检证实了诊断。儿科医生在超声检查显示先天性无尿且肾脏结构正常的患儿中应考虑RTD的诊断，尤其是在母亲有孕晚期羊水过少病史的情况下。
