Abstract
Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS.
Highlights
Gitelman syndrome (GS) is an autosomal recessive disease
We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and diabetic ketoacidosis (DKA) with profound hypokalemia and hypomagnesemia who was provisionally found to have GS
We describe the findings and treatment of a young patient who presented with a new onset of diabetic ketoacidosis (DKA), who, after managing hyperglycemia and hyperosmolarity, still had profound hypokalemia and hypomagnesemia and was provisionally diagnosed with GS
Summary
Gitelman syndrome (GS) is an autosomal recessive disease. The prevalence of GS has been estimated to be 110 in 40,000 [1]. Despite aggressive repletion of potassium and magnesium, the patient remained hypokalemic and hypomagnesemic He required 40-80 mEq of potassium chloride and 1 g of oral magnesium daily after acidosis and polyuria resolved to bring the serum potassium and magnesium concentrations to the normal level. The urine random studies revealed sodium 32 mEq/L, chloride 54 mEq/L, potassium 79 mEq/L, magnesium 8.5 mg/dL, calcium 6.5 mg/dL, phosphorus 48.8 mg/dL and creatinine 60.3 mg/dL In this case, the management of ketoacidosis required high doses of intravenous potassium chloride to obtain normal serum potassium levels. After the management of DKA, the patient showed continued hypokalemia and hypomagnesemia with a new metabolic alkalosis while urine chloride was more than 40 mEq/L He was discharged with Levemir® insulin, lispro insulin, oral magnesium gluconate and potassium chloride.
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