Pregnancy complicated with Gitelman syndrome: A case report and literature review

Gitelman syndrome, also known as familial hypokalemia, is primarily characterized by hypokalemic metabolic alkalosis, severe hypomagnesemia, and hypocalciuria.

A 26-year-old female patient presented with a 4-month history of amenorrhea, intermittent nausea and vomiting for 1.5 months, and worsening symptoms in the past day. She was initially admitted to the reproductive gynecology department with a diagnosis of hyperemesis gravidarum. Due to severe hypokalemia, she was transferred to the ICU.

Genetic testing revealed 2 heterozygous mutations in the SLC12A3 gene: c.179C>T (p.T60M) and c.1077C>G (p.N359K), confirming the diagnosis of Gitelman syndrome.

We gradually decreased the amount of intravenous potassium supplementation, transitioning to oral potassium supplementation. Meanwhile, we administered intermittent magnesium supplementation. This approach maintained the patient's serum potassium level at approximately 3.0 mmol/L and serum magnesium level at approximately 0.8 mmol/L.

During the hospitalization, a follow-up obstetric ultrasound indicated normal fetal development. The patient was discharged after her condition improved.

For pregnant patients with Gitelman syndrome, there is a lack of evidence-based treatment guidelines at present. It is crucial to implement multidisciplinary management and adopt a prudent, individualized approach to enhance the likelihood of achieving favorable maternal and fetal outcomes.