What is Gitelman’s syndrome?

Gitelman’s syndrome

Gitelman’s syndrome is an inherited disorder (Autosomal recessive) of the kidney tubule. It’s mimic the clinical features of chronic thiazide diuretics administration.

Pathogenesis of Gitelman’s syndrome:

Gitelman’s syndrome occurs due to mutation of the gene which encodes thiazide sensitive NCCT (Na-Cl co-transporter) in the distal convoluted tubule. This results in impairment of sodium and chloride reabsorption in distal convoluted tubules. It is still unclear why this defect leads to severe hypomagnesaemia.

Clinical features and laboratory findings of Gitelman’s syndrome:

  • Gitelman’s syndrome is more common than Bartter’s syndrome and usually present at a later age
  • It mainly presents with neuromuscular signs and symptoms like fatigue, weakness, carpopedal spasm, cramps, tetany etc.
  • Normal blood pressure
  • Hypokalemia
  • Hypocalciuria
  • Severe hypomagnesaemia
  • Metabolic alkalosis
  • Increased renin and aldosterone
N.B: its features are similar to the features of chronic thiazide diuretics use.

Treatment of Gitelman’s syndrome:

  • Magnesium and potassium supplementation with the liberal salt intake (life-long)
  • Potassium-sparing diuretics
  • Volume resuscitation and NSAID are not necessary(unlike Bartter's syndrome). 

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