A case of Gitelman syndrome with physical retardation / 中南大学学报(医学版)

ABSTRACT

Gitelman syndrome is a rare disease.It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms.A girl with long-term hypokalemia,who presented with intermittent pain of lower limb muscle and physical retardation,was treated in Xiangya Hospital,Central South University.Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis.Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome.Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis.Gene therapy is expected to be the most effective treatment for this disease.