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Related Experiment Videos

Transient Antenatal Bartter's Syndrome: A Case Report.

Michelle Meyer1, Margarita Berrios1, Christina Lo1

  • 1UCSF Benioff Children's Hospital Oakland, Oakland, CA, United States.

Frontiers in Pediatrics
|March 30, 2018
PubMed
Summary

A rare transient form of antenatal Bartter's syndrome, caused by a MAGED2 mutation, can lead to severe polyhydramnios. This case highlights a novel mutation and spontaneous symptom resolution without indomethacin treatment.

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Area of Science:

  • Genetics
  • Perinatology
  • Pediatric Nephrology

Background:

  • Antenatal Bartter's syndrome is a rare inherited disorder typically diagnosed later in gestation.
  • A recently identified transient form, linked to MAGED2 mutations, presents earlier with severe polyhydramnios and preterm birth, but resolves postnatally.
Keywords:
melanoma-associated antigen D mutationpolyhydramniospolyuriaprematuritytransient antenatal Bartter’s syndrome