Prenatal diagnosis of Bartter syndrome

Prenat Diagn. 1994 Oct;14(10):996-8. doi: 10.1002/pd.1970141017.

Abstract

Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aldosterone / analysis
  • Aldosterone / blood
  • Amniotic Fluid / chemistry
  • Bartter Syndrome / blood
  • Bartter Syndrome / diagnosis*
  • Bartter Syndrome / genetics
  • Female
  • Fetal Blood / chemistry
  • Fetal Diseases / blood
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Humans
  • Obstetric Labor, Premature / etiology
  • Polyhydramnios / diagnosis
  • Polyhydramnios / etiology
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / etiology
  • Prenatal Diagnosis*
  • Renin / blood

Substances

  • Aldosterone
  • Renin