[A case of Gitelman syndrome with physical retardation].
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 42(10): 1236-1238, 2017 Oct 28.
Article
in Zh
| MEDLINE
| ID: mdl-29093260
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Gitelman Syndrome
/
Hypokalemia
Type of study:
Etiology_studies
Limits:
Child
/
Female
/
Humans
Language:
Zh
Journal:
Zhong Nan Da Xue Xue Bao Yi Xue Ban
Journal subject:
MEDICINA
Year:
2017
Document type:
Article
Affiliation country:
China