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Gitelman Syndrome in a Toddler With Normal Blood Test Findings Except on Sick Days

Shoichiro Shirane1, Shogo Amemiya1, Yuya Saito1

  • 1Department of Pediatrics, Tokyo Metropolitan Tama-Hokubu Medical Center, Tokyo, Japan.

Nephrology (Carlton, Vic.)
|April 23, 2025
PubMed

Insights

Gitelman syndrome (GS) can present with electrolyte and acid-base abnormalities, particularly during illness. This case highlights the importance of considering GS in patients with unexplained hypokalemia and metabolic alkalosis, even if tests are normal otherwise.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Neurology

Background:

  • Gitelman syndrome (GS) is a rare genetic disorder affecting ion transport in the kidneys.
  • It typically presents with hypokalemia, metabolic alkalosis, and hypomagnesemia.

Observation:

  • A 3-year-old Japanese male presented with febrile status epilepticus, exhibiting metabolic and respiratory acidosis, hypokalemia, hypomagnesemia, and elevated bicarbonate.
  • These abnormalities resolved with fluid therapy.

Findings:

  • Previous seizure clusters showed similar electrolyte and acid-base disturbances, including hypokalemia and metabolic alkalosis.
  • Genetic testing confirmed Gitelman syndrome.
  • The patient's abnormalities were primarily observed during 'sick days' or acute illness.

Implications:

  • This case underscores that Gitelman syndrome may manifest electrolyte and acid-base imbalances predominantly during acute illness.
  • Clinicians should consider GS in patients with unexplained hypokalemia and metabolic alkalosis, especially when abnormalities fluctuate.
  • Early diagnosis of GS is crucial for appropriate management and preventing complications.

Keywords:
Gitelman syndromehypokalaemiametabolic alkalosisseizuresick days

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