In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome.

Abstract

BACKGROUND:

Hypokalemia and hypomagnesemia caused due to renal losses with chloride-resistant metabolic alkalosis in normotensive patients should remind clinicians of the rare inherited tubulopathy, Gitelman syndrome. Its diagnosis is further strengthened by the presence of consanguinity and the absence of kaliuretic medications. A definitive diagnosis should be based on genetic testing.

CASE REPORT:

We present the cases of three asymptomatic adult patients who were genetically (mutation in the SCL12A3 gene) diagnosed with Gitelman syndrome of different severity and response to therapy in terms of hypokalemia, hypomagnesemia, and metabolic alkalosis.

CONCLUSION:

This lifelong disease could cause life-threatening conditions due to the cardiac complications of hypokalemia in some of the affected patients. Therefore, it is necessary to be aware of the appropriate diagnosis and treatment for patients admitted to the clinic with hypokalemia, hypomagnesemia, hypocalciuria, and hyperreninemia. HIPPOKRATIA 2019, 23(4): 175-178.

• Authors: B Güvercin, K Kaynar, Ö Güler, M Kalyoncu
• Journal: Hippokratia (Hippokratia) 2019 Oct-Dec Vol. 23 Issue 4 Pg. 175-178 ISSN: 1108-4189 [Print] Greece
• PMID: 32742169 (Publication Type: Case Reports)
• Copyright: Copyright 2019, Hippokratio General Hospital of Thessaloniki.