Gitelman Syndrome. 2017

Qurat Ul Ain Mustafa, and Zujaja Hina Haroon, and Aamir Ijaz, and Muhammad Tanveer Sajid, and Muhammad Ayyub
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.

UI MeSH Term Description Entries
D008297 Male Males
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D053579 Gitelman Syndrome An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. Familial Hypokalemia-Hypomagnesemia,Gitelman's Syndrome,Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria,Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria,Potassium and Magnesium Depletion,Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria,Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria,Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria,Familial Hypokalemia Hypomagnesemia,Hypokalemia-Hypomagnesemia, Familial,Syndrome, Gitelman,Syndrome, Gitelman's,Tubular Hypomagnesemia Hypokalemia with Hypocalcuria
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults

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