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A rare cause of Recurrent Life-Threatening Myopathy


Tags : gitelmansyndrome, hypokalaemia, myopathy

Category : Cases reports

Authors : Clarinda Neves, Joana Ricardo Pires, Leonor Naia, Mariana Teixeira

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Hypokalaemia is an electrolyte abnormality with several aetiologies and a broad clinical
spectrum. Secondary myopathy is sometimes the first symptom in severe cases (<2.5 mmol/L) or
sudden onset of hypokalaemia. We report the case of a 36-year-old man, admitted repeatedly in the
emergency department due to intense chest pain and myopathy. Laboratory results revealed
hypokalaemia (2.5 mmol/L), metabolic alkalemia (pH 7.52, bicarbonates 31.2 mmol/L) and
hypomagnesaemia (1.4 mg/dL). Hypokalaemia was always corrected along with pain resolution, and
he was discharged for future evaluation in the internal medicine outpatient clinic. After an extensive
aetiological study, the SLC12A3 gene was sequenced and confirmed the diagnosis of Gitelman
syndrome. Recurrent myopathy is a challenging diagnosis and may be the presentation of Gitelman
syndrome onset, secondary to prolonged periods of non-excitability of the muscle membrane. Urgent
correction of electrolyte disturbance is essential, and its clinical severity imposes a fast and accurate
diagnostic algorithm.