NYMC Faculty Publications

Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis

Author Type(s)

Faculty

DOI

10.7759/cureus.14253

Journal Title

Cureus

First Page

14253

Last Page

14253

Document Type

Case Report

Publication Date

4-2-2021

Department

Medicine

Abstract

Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS.

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