Renal tubular dysgenesis (RTD), with hypoplasia especially of renal proximal convoluted tubules and clinical neonatal
anuria or
oliguria, has been reported as a congenital familial (autosomal recessive) disease, variably with features of
oligohydramnios,
Potter syndrome, or pulmonary hypoplasia. A similar tubular lesion due to antenatal tubular
atrophy has been reported for
conjoined twins with
twin-twin transfusion syndrome or acardia and in infants of mothers given
antihypertensive agents, including
angiotensin-converting enzyme (
ACE) inhibitors, during pregnancy, and it has been seen as a unilateral lesion in young infants with
renal artery stenosis due to
arteritis or medial arterial
calcinosis. The renal tubular changes in RTD are very like those of the "endocrine kidney" in experimental animals and resemble those of the renal tubular
atrophy of end-stage
kidney diseases such as
glomerulonephritis, tubulointerstitial
kidney disease, obstructive uropathy/
pyelonephritis, graft rejection of transplanted kidneys, or the renal parenchymal changes seen with protracted dialysis
therapy. Labeled
lectins that differentially mark proximal convoluted, distal convoluted and connecting, and collecting tubules showed no distinctive differences in staining patterns of the hypoplastic renal tubules of infants and children with RTD, postnatal
renal artery obstruction, or the various types of
end-stage renal disease with the
lectins used (PNA, GSLI, UEA, and LTA). The findings suggest that the renal tubular changes in some if not all the conditions studied are the result of renal
ischemia. The reported familial RTD with hypernephronic nephromegaly may be a specific disorder, but other forms could reflect renal
ischemia acquired in utero or in early or later postnatal life.