Childhood Gitelman syndrome and systematic management
10.3760/cma.j.issn.1673-4408.2025.06.003
- VernacularTitle:儿童Gitelman综合征及系统管理
- Author:
Chunlin GAO
1
Author Information
1. 东部战区总医院儿科，南京 210002南京大学医学院附属金陵医院（东部战区总医院）儿科 210002南京医科大学附属金陵医院儿科 210002
- Keywords:
Children;
Gitelman syndrome;
Hypokalemia;
Metabolic alkalosis;
Renal tubular disease
- From:
International Journal of Pediatrics
2025;52(6):371-375
- CountryChina
- Language:Chinese
-
Abstract:
Gitelman syndrome（GS）is a salt-losing kidney disease caused by dysfunction of the Na-Cl cotransporter（NCC）in the distal tubular of the kidney. It often occurs after the age of 6. The main clinical features include hypokalemia，metabolic alkalosis，hypomagnesemia，hypocalciuria，hyperrenin-hyperaldosteronemia，and normal or low blood pressure. The child patient may show symptoms such as thirst，muscle weakness or cramps，salt craving，fatigue，etc.，which are prone to missed diagnosis and misdiagnosis. In severe cases，epileptic seizures，rhabdomyolysis，prolonged QT interval and abnormal rhythm may occur. Diagnosis requires the exclusion of conditions that can easily cause hypokalemic alkalosis，such as diuretic use and Bartter syndrome. Genetic testing for biallelic mutations in the SLC12A3 gene can confirm the diagnosis.Lifelong supplementation of potassium chloride and magnesium is required，along with regular re-examination and treatment adjustment，as well as monitoring of adverse drug reactions and complications. Therefore，Clinicians need to identify and manage GS.
