Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

Fetal Diagn Ther. 2023;50(1):17-21. doi: 10.1159/000529081. Epub 2023 Jan 18.

Abstract

Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death, with only limited case reports of survival over 2 years [Clin Kidney J. 2012 Feb 1;5(1):56-8]. Prenatal diagnosis of ARRTD is challenging, and diagnosis has only previously been confirmed after postnatal or post-mortem investigation.

Case: To the best of our knowledge, we describe the first reported case of utilizing targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene.

Discussion: By substantiating the diagnosis of ARRTD prenatally, we allow timely and appropriate counseling during pregnancy.

Keywords: Anhydramnios; Genetic disorder; Oligohydramnios; Prenatal diagnosis; Renal tubular dysgenesis; Renin-angiotensin system.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Kidney Tubules, Proximal
  • Oligohydramnios* / diagnostic imaging
  • Oligohydramnios* / genetics
  • Pregnancy
  • Urogenital Abnormalities*

Supplementary concepts

  • Allanson Pantzar McLeod syndrome