Clinical Characteristics And Analysis Of SLC12A3Gene Mutation Of Three Patients With Gitelman Syndromes

Objective To analyze the clinical characteristics and mutation ofSLC12A3gene of three patients with Gitelman syndrome．Methods Three patientswith Gitelman syndrome was selected，and the clinical manifestations and auxiliaryexaminations were conducted．Besides，SLC12A3gene detection was carried out intwo patients． Results For three patients， serum potassium level waslower．SLC12A3gene detection revealed a deletion of2bases (TG) on exon8and two missense mutations on exon3and exon23differently for first patient;while there was only one missense mutations on exon23in second patient and therewas only one missense mutations on exon1in third patient．Conclusion Theprimary clinical manifestations of Gitelman syndrome are lower extremity weaknesswith hypokalemia and hypomagnesemia. Detection of SLC12A3gene may help tomake early diagnosis．...