Gitelman syndrome (GS) is a genetically transmitted tubulopathy. It is caused by mutation in the thiazide-sensitive Na-Cl cotransporter-coding gene, SLC12A3. In this case study, we have discussed a patient diagnosed with GS and referred with muscular weakness and cramping complaints due to discontinuing potassium replacement in the follow-up. The patient was diagnosed with rhabdomyolysis and acute kidney injury secondary to hypokalemia upon determination of 2.14 mEq/L potassium, 27.610 U/L creatine kinase, and 3.09 mg/dL creatinine in further examination. Therefore, NaCl 100 cc/h isotonic was administered to the patient in addition to oral and intravenous potassium replacement. The dose of given acetazolamide was 2x250 due to the presence of severe metabolic alkalosis. Clinical and laboratory findings were fully restored to normal levels one week following the initiation of treatment.
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Santa Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
Durao, Filipa
Valerio, Patricia
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Santa Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
Valerio, Patricia
Marques, Barbara
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Ctr Hosp Oeste, Paediat Serv, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
Marques, Barbara
Silva, Raquel Gouveia
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Santa Maria Hosp, Dept Paediat, Genet Serv, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
Silva, Raquel Gouveia
Janeiro, Patricia
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Santa Maria Hosp, Dept Paediat, Metab Dis Unit, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
Janeiro, Patricia
da Silva, Jose E. Esteves
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Santa Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, PortugalSanta Maria Hosp, Acad Ctr, Dept Paediat, Nephrol & Kidney Transplantat Unit, Lisbon, Portugal
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Santa Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal
Durao, Filipa
Valerio, Patricia
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Santa Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal
Valerio, Patricia
Marques, Barbara
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Ctr Hosp Oeste, Paediat Serv, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal
Marques, Barbara
Silva, Raquel Gouveia
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h-index: 0
机构:
Santa Maria Hosp, Genet Serv, Dept Paediat, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal
Silva, Raquel Gouveia
Janeiro, Patricia
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Santa Maria Hosp, Metab Dis Unit, Dept Paediat, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal
Janeiro, Patricia
da Silva, Jose E. Esteves
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h-index: 0
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Santa Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, PortugalSanta Maria Hosp, Nephrol & Kidney Transplantat Unit, Dept Paediat, Acad Ctr, Lisbon, Portugal