Advanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome.

Abstract

We report a case of a 58-year-old woman presenting with symptoms of oliguria, fatigue, anorexia, constipation, hypovolemic signs, and laboratory tests showing severe hypokalemia (1.7 mEq/L), hyponatremia (120 mEq/L), high serum creatinine (SCr, 6.46 mg/dL) and urea (352 mg/dL). The patient had previously been diagnosed with chronic kidney disease (CKD), with SCr up to 2.58 mg/dL 1 year prior, and had in all her previous laboratory tests shown hypokalemia, which was treated with conservative measures and eplerenone despite low-normal blood pressure and normal heart function. A set of coordinated measures were applied to restore the potassium deficit, revert hypovolemic hyponatremia, and support renal function (including 4 dialysis sessions). In addition, a careful diagnostic approach revealed inappropriately high urine sodium and potassium losses, hypocalciuria, and hyperreninemic hyperaldosteronism leading to the diagnosis of Gitelman syndrome and hypokalemia-associated chronic tubulointerstitial nephropathy. Importantly, compliance with a simple set of instructions on high potassium and liberal sodium diet enabled the patient not only to remain euvolemic, free of symptoms, and with normal electrolytes, but also to recover a significant part of renal function and stabilize at an earlier CKD stage. Gitelman syndrome is a rare disorder that can be easily diagnosed and treated following simple measures; its early diagnosis is necessary to avoid life-threatening complications.