Autosomal recessive renal tubular dysgenesis: The need for clinical vigilance in anuric fetuses with normal renal sonography

Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare genetic disorder, characterized by histopathological hallmark of the absence or poor differentiation of proximal tubules [ [1] Lacoste M. Cai Y.i. Guicharnaud L. Mounier F.C. Dumez Y. Bouvier R. et al. Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. J Am Soc Nephrol. 2006; 17: 2253-2263 Crossref PubMed Scopus (76) Google Scholar ]. Death occurs in almost all cases either before or soon after birth, secondary to refractory hypotension and/or pulmonary hypoplasia. Prenatal diagnosis of ARRTD is challenging because affected pregnancies may present only a few features, for example, oligohydramnios/anhydramnios with a normal second trimester anatomic ultrasound.