Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review.

ABSTRACT

Renal tubular dysgenesis (RTD) is a rare form of noncystic renal disease characterized by paucity or absence of proximal renal tubules. Always lethal in the perinatal period, it has been associated with Potter sequence and with other congenital malformations. An autosomal recessive inheritance has been suggested. We present a case of renal tubular dysgenesis associated with fetal hydrops and trisomy 21, with a review of relevant literature.