A case of Gitelman syndrome with physical retardation
10.11817/j.issn.1672-7347.2017.10.019
- VernacularTitle:Gitelman综合征伴体格发育落后1例
- Author:
Juan HUANG
1
;
Xiangrong ZHENG
;
Dandan GUO
;
Guoyuan ZHANG
;
Xia WANG
;
Chentao LIU
Author Information
1. 中南大学湘雅医院儿科
- Keywords:
Gitelman syndrome;
physical retardation;
hypokalemia;
children
- From:
Journal of Central South University(Medical Sciences)
2017;42(10):1236-1238
- CountryChina
- Language:Chinese
-
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.
