Ann Short Rep | Volume 1, Issue 6 | Case Report | Open Access

Differential Diagnosis of a Female Young Adult with Generalized Weakness, Hypokalemia, Hypomagnesemia and Inappropriate Kaliuresis and Clinical Diagnosis of Gitelman’s Syndrome

Dafni Koumoutsea^1,2,3, Ιοannis Karydis^4*, Vasileios German² and Ioannis Griveas³

¹Department of Endocrinology, Sector of Internal Medicine 401 General Army Hospital of Athens, Greece
²Department of Internal Medicine, NIMTS (Veterans Affairs) Hospital of Athens, Greece
³Division of Renal Medicine, NIMTS (Veterans Affairs) Hospital of Athens, Greece
⁴Department of Internal Medicine, University of Cyprus, Nicosia, Cyprus

^*Correspondance to: Ιοannis Karydis 

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Abstract

We present the case of a 23-year-old female patient referred to the emergency department due to persistent generalized muscle weakness and whole-body fatigue, gradually deteriorating during the last three months. The patient’s medical history as well as family history was unremarkable. Detailed physical examination did not reveal any specific signs of disease. Her blood pressure, which was measured twice daily, was within the normal range. Biochemical blood testing revealed hypokalemia, hypomagnesemia, metabolic alkalosis, increased plasma renin activity and increased plasma aldosterone levels. The patient’s age, the clinical manifestations and the results of the laboratory tests led as to include Gitelman syndrome in our differential diagnosis. Gitelman syndrome is a very rare autosomal recessive inherited tubular disorder, usually affecting young adults. Gitelman syndrome is typically characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, increased serum renin and aldosterone levels and normal arterial blood pressure. The patient was treated with spironolactone and oral potassium supplements with restoration of normal serum potassium levels and resolution of her symptoms and thus the final diagnosis of Gitelman syndrome was established.

Keywords:

Gitelman syndrome; Hypokalemia; Metabolic alkalosis; Hyperreninemic hyperaldosteronism

Citation:

Koumoutsea D, Karydis Ι, German V, Griveas I. Differential Diagnosis of a Female Young Adult with Generalized Weakness, Hypokalemia, Hypomagnesemia and Inappropriate Kaliuresis and Clinical Diagnosis of Gitelman’s Syndrome. Ann Short Reports. 2018;1:1027.