Case report: Gitelman syndrome

Abstract

The arrival of an emergency patient is one of the many scenarios that family physicians face, from a biological approach, a critical clinical case is analyzed, with peculiar signs and symptoms, which upon arrival are masked by an acute state and that during its evolution it debuts with an electrolyte imbalance - severe hypokalemia of alleged chronic base, which is the reason for this study.
Its hypokalemia attracts our attention because initially these values ​​are corrected towards normal parameters, during its evolution there is evidence of a decrease in potassium and this time associated with hypomagnesemia; So our diagnostic landscape is expanded. Opening the fan to more causes of hypokalemia.
The possible etiologies of hypokalemia due to losses, through laboratory tests, between renal and extrarenal causes, were ruled out, and the reason for this investigation was impacted, leading us towards an exceptional and unique pathology.
Gitelman syndrome is an autosomal recessive inheritance tubulopathy, its fundamental alteration is in the distal tubule, with involvement at the level of the Na / Cl cotransporter, sensitive to thiazide diuretics, encoded on chromosome 16q; characterized by a metabolic alkalosis with hypokalemia, associated with hypomagnesemia and a decrease in urinary calcium secretion.
This type of patient is a paradigm of the chronic patient, who needs attention, diagnosis and timely follow-up, due to their genetic origin, their mortality, pharmacological therapies, the quality of life of patients and their families, who suffer from this pathology.