Gitelman Syndrome.

J Coll Physicians Surg Pak 2017 Mar;27(3):S30-S32

Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi.

Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0.69 mmol/L and metabolic alkalosis. Urine analysis showed surprising results, i.e. urine potassium 49.5 mmol/L, urine spot potassium creatinine ratio 5.1, chloride 93 mmol/L and low 24 hours urinary calcium excretion (1.19 mmol/day). Plasma active renin concentration was 135 mlU/L while plasma aldosterone was 1090 pmol/L, depicting secondary hyperreninemic hyperaldosteronism. Based on typical findings, a diagnosis of GS was made. Patient responded well to potassium and magnesium supplementation, 100 mg daily tablet aldactone® and liberal salt intake. The aim of this report is to revisit clinical approach to persistent hypokalemia with special emphasis to remember rare entities like GS in the differential diagnosis.

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March 2017
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