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Case report
Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy
  1. Marie Lim1 and
  2. David Gannon2
  1. 1Colchester General Hospital, Colchester, UK
  2. 2Emergency Admission Unit, Colchester General Hospital, Colchester, UK
  1. Correspondence to Dr Marie Lim; marie.lim{at}doctors.org.uk

Abstract

A 32-year-old woman presented with an incidental finding of hypokalaemia on routine bloods at 9 weeks of a second pregnancy, on a background of lifelong salt craving. Her previous pregnancy was uncomplicated. She had no previous significant medical or family history. Venous blood gases showed a hypokalaemic, normochloraemic metabolic alkalosis. Urinary potassium was elevated. Escalating doses of oral supplementation of potassium, magnesium, sodium and potassium-sparing diuretics were required through the course of pregnancy, in response to regular electrolyte monitoring. These were later weaned and completely stopped post partum. Delivery was uneventful with no maternal or neonatal complications. Genetic testing performed post partum showed heterogenous mutation of SCL12A3 gene.

  • fluid electrolyte and acid-base disturbances
  • pregnancy

https://doi.org/10.1136/bcr-2021-241756

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    Footnotes

    • Contributors ML performed collection of clinical data and wrote up the manuscript after a review of the relevant literature. DG is the senior author who reviewed and supervised the writing of this manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.