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Gitelman Syndrome

Inicio Tubulopathies Gitelman Syndrome

Features

Disturbance in NCCT co-transporter in renal distal tubule which leads to an abnormal sodium urinary wasting, moderate volume depletion and renin-angiotensin system over activity.

Clinical Manifestations

Many patients are asymptomatic or exhibit mild symptoms beginning in late childhood or youth. Patients usually have preference for salty foods and neuromuscular symptoms such as fatigue, muscle weakness or muscle cramps are common complaints. In a minority of cases, patients may have delayed growth and short stature.

Diagnosis

Metabolic alkalosis and a decreased level of potassium and magnesium. The most characteristic finding in the urine, besides the presence of hypermagnesuria and hyperkaluria, is a diminution of calcium excretion.

Genetics

Mutation with functional defect in gen SLC12A3 localized in the long arm of cromosome 16. Autosomal recessive inheritance pattern. For the genetic study it will be necessary samples of the index case and the parents.

Treatment

Potassium and magnesium in oral supplements. Occasionally intravenous supplement may be needed.

Prognosis

Excellent prognosis, although can affect the quality of life.

Complications

Cardiac arrytmia, tetania.