Gitelman syndrome

Gitelman syndrome is an inherited kidney tubule disorder caused by impaired sodium-chloride reabsorption in the distal convoluted tubule. It typically causes low blood potassium and magnesium, metabolic alkalosis, and low urinary calcium.

Distal convoluted tubule: A kidney nephron segment that reabsorbs sodium chloride and helps regulate calcium and magnesium balance. The defective transporter normally reabsorbs sodium chloride in this nephron segment.
Hypokalemia: An abnormally low concentration of potassium in the blood. Potassium depletion is a defining biochemical feature and can cause weakness or cramps.
Bartter syndrome: A group of inherited kidney tubule disorders that impair salt reabsorption, often causing hypokalemic metabolic alkalosis. It resembles Gitelman syndrome but usually involves an earlier nephron segment and higher urinary calcium.
Genetic testing: Analysis of DNA to identify variants associated with inherited conditions. Testing SLC12A3 can confirm the inherited cause when clinical findings suggest Gitelman syndrome.
Hillel J. Gitelman: An American physician who described the inherited kidney disorder now known as Gitelman syndrome. His clinical report established the syndrome as a recognizable disorder.
Thiazide-sensitive sodium-chloride cotransporter: A membrane protein that reabsorbs sodium and chloride from kidney filtrate in the distal convoluted tubule. Its reduced activity is the direct transport defect in Gitelman syndrome.
Hypocalciuria: An abnormally low amount of calcium excreted in urine. Reduced urinary calcium distinguishes this pattern from many related salt-losing disorders.
Liddle syndrome: An inherited hypertension disorder caused by excessive activity of epithelial sodium channels in kidney tubules. Unlike Gitelman syndrome, it typically causes hypertension, low renin, and low aldosterone.
Electrocardiography: A recording of the heart’s electrical activity from electrodes placed on the skin. Significant potassium or magnesium depletion can alter cardiac repolarization and the ECG.
SLC12A3: A gene encoding the thiazide-sensitive sodium-chloride cotransporter in the kidney’s distal convoluted tubule. Later genetic work linked the syndrome to variants in this transporter’s gene.

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