Gitelman syndrome, a case report

Tubulopathies are a heterogeneous group of conditions defined by abnormalities of renal tubular function. The Gitelman Syndrome, subject of our case, is caused by inactivating mutations of the SLC12A3 gene, which codifies the Na-Cl cotransporter thiazide, sensitive to the distal convoluted tubule, thus producing a urinary loss of Na Cl. It usually begins in late childhood or adolescence, with eagerness for salty foods, excessive tiredness, weakness and muscle cramps. A small proportion of children may have failure to thrive. Characteristically they do not have hypertension and decreased glomerular function. In some patients the clinical manifestations are mild and can go unnoticed.