It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule.

• 临床上症状的差异性很大，多发生于青年及成年人；常见的症状包括嗜盐、夜尿、肌肉无力、疲倦、痉挛等；也有部份的病患是属于意外发现的。