Abstract

A CASE STUDY ON GITELMAN’S SYNDROME

Anina Anil*, Alfa Mariyam Thomson and Jyothi Susan George

ABSTRACT

Gitelman’s syndrome is a rare genetic disorder that impairs the kidney’s ability to absorb salt. GS causes changes in electrolyte concentrations primarily affecting potassium, magnesium, calcium, sodium and chloride. Symptoms and severity can vary greatly, and the onset of symptoms is frequently delayed until adulthood. Here we present the case of a 37 year old male patient with complaints of abdominal pain, numbness over feet and palm, generalized tiredness, weight loss and decreased appetite. Biochemical evaluation showed hypokalemia, hypomagnesaemia. Arterial gas analysis revealed a metabolic alkalosis. The patient also had reduced urinary calcium excretion, and increased urinary potassium and chloride elimination. Clinical examination showed a lower normal blood pressure. Other evaluations were found to be normal and the patient was diagnosed with Gitelman’s syndrome. He was treated with oral sspotassium and magnesium supplements and the follow up routinely done.

Keywords: Gitelman’s syndrome, hypokalemia, hypomagnesaemia, metabolic alkalosis.