Gitelman Syndrome: A Cause for Recurrent Hypokalaemia with Tetany

Abstract

An important genetic cause of recurrent hypokalaemia is defect in the distal tubules. This case report is about a 35-year-old male patient that presented to the casualty with acute onset of flaccid weakness of all the four limbs with muscle pain, cramps and tetanic spasm. Patient also had similar weakness in the past, 2 years back. On examination, he was normotensive with hypotonia noted in all four limbs with retained reflex. Evaluation showed hypokalaemia (1.4 mEq/L), hypomagnesaemia (1.1 mg/dL), metabolic alkalosis (pH 7.535, bicarbonate 33 mEq/L), increased urinary sodium (80 mEq/L) and potassium (60 mEq/L) and reduced urinary calcium excretion (0.73 mmols/L). Renal functions were normal and renal ultrasound showed normal size kidneys. Based on this clinical and biochemical background, a diagnosis of Gitelman syndrome was made patient was managed with intravenous and oral potassium chloride, injectable magnesium sulphate and normal saline. The aim this report was to emphasise that Gitelman syndrome though rare, is an important differential diagnosis for recurrent hypokalaemia presenting with tetany.

Keywords

• hypomagnesaemia
• metabolic alkalosis
• tetanic spasm