Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Kidney Int. 2016 Oct;90(4):721-3. doi: 10.1016/j.kint.2016.07.031.

Abstract

The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

Publication types

  • Comment

MeSH terms

  • Bartter Syndrome*
  • Female
  • Humans
  • Mutation
  • Polyhydramnios*
  • Pregnancy
  • Rare Diseases