Hypokalemic alkalosis with hypocalciuria and normomagnesemia: A subgroup of Gitelman's syndrome?

Abstract

We report a normomagnesemic patient with low normal blood pressure, hypokalemic alkalosis, hyperreninemia, hyperaldosteronism, and hypocalciuria. In renal clearance studies, distal delivery increased well and fractional distal solute reabsorption was dramatically diminished after the administration of furosemide, whereas thiazide produced no change in distal delivery and a moderate decrease in fractional distal solute reabsorption. These findings suggested that there may have been a defective locus in some part of the thiazide-sensitive segment of the distal convoluted tubule. As the features in this patient appear to be similar to those in Gitelman's syndrome, it is appropriate to designate this case, characterized by lack of hypomagnesemia, as a subgroup of Gitelman's syndrome.

Gitelman syndrome with hypocalciuria and normomagnesemia

“…Therefore, she was diagnosed as having Gitelman syndrome with normomagnesemia. The laboratory features in my patient appear to be similar to those in the patient described by Maki et al 1 Maki et al 1 presented their case as a subgroup of Gitelman syndrome without hypomagnesemia, from the results of renal clearance studies. Both my patient and the patient described by Maki et al 1 indicate that hypomagnesemia is one of the major features of Gitelman syndrome; however, this is not an absolute criterion for the diagnosis of Gitelman syndrome.…”

“…To the Editor: I read with interest the article by Maki et al 1 entitled "Hypokalemic alkalosis with hypocalciuria and normomagnesemia: a subgroup of Gitelman's syndrome?" in the Journal.…”