SLC12A3 and Gerstmann syndrome: In addition, due to long-term electrolyte disorder and acid-base imbalance, it will lead to growth retardation and kidney damage in children.[1] The pathogenesis of giltelman syndrome (GS) is due to the mutation of the gene SLC12A3 encoding the sodium chloride cotransporter sensitive to thiazide diuretics localized in the distal convoluted tubules of the kidney.