[Renal tubular dysgenesis and mutation in the renin gene]

Arch Pediatr. 2007 Sep;14(9):1084-7. doi: 10.1016/j.arcped.2007.04.012. Epub 2007 Jun 6.
[Article in French]

Abstract

Renal tubular dysgenesis is a severe and rare disorder of the renal development characterized by fetal anuria, oligohydramnios and early death from pulmonary hypoplasia and refractory arterial hypotension. We report on a female patient who presented with anuria in the neonatal period, requiring peritoneal dialysis until 5 months of age with unexpected diuresis recovery at 2 months of age. Clinical, histological and pathophysiological issues are discussed for this disease related to a mutation in the renin gene.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Angiotensinogen / genetics*
  • Anuria / etiology
  • Diuresis
  • Female
  • Humans
  • Infant
  • Kidney Tubules / abnormalities*
  • Mutation
  • Recovery of Function
  • Renal Insufficiency / etiology
  • Renin / genetics*

Substances

  • Angiotensinogen
  • Renin