Renal tubular dysgenesis: An unusual cause of anhydramnios

Abstract

We present case of renal tubular dysgenesis, a rare fetal disorder of abnormal renal tubule development which causes anhydramnios and neonatal death. Kidneys are of normal size, with non-specific, subtle, ultrasound abnormalities, but show absence or incomplete differentiation of proximal tubules due to abnormalities of the renin angiotensin system. We highlight the need for post-mortem for accurate diagnosis, targeted genetic testing, genetic counselling and subsequent antenatal screening for this usually autosomal recessive condition.