Advances in the clinical diagnosis and management of childhood Bartter syndrome
10.3760/cma.j.issn.1673-4408.2025.10.003
- VernacularTitle:儿童Bartter综合征的临床诊治进展
- Author:
Yulin KANG
1
;
Jiayin LI
Author Information
1. 上海市儿童医院 上海交通大学医学院附属儿童医院肾脏风湿免疫科 200062
- Keywords:
Children;
Bartter syndrome;
Pathophysiology;
Molecular genetics;
Diagnosis;
Differential diagnosis
- From:
International Journal of Pediatrics
2025;52(10):660-664
- CountryChina
- Language:Chinese
-
Abstract:
Bartter syndrome（BS）is a group of disorders caused by mutations in genes encoding ion transport proteins in the renal tubular epithelium，which leads to impaired salt reabsorption in the thick ascending limb of the loop of Henle. The common features include hypokalemia，metabolic alkalosis，hyperreninemia，and hyperaldosteronism，with normal or low blood pressure. In pediatric patients，BS often has an insidious onset and nonspecific clinical manifestations，making its diagnosis and differential diagnosis challenging. This review systematically elaborates the pathophysiological mechanisms，molecular genetic basis，clinical spectrum，diagnostic approaches，and key points for differential diagnosis of pediatric BS，as well as explores the application of gene sequencing in this disorder，aiming to provide clinicians with a clear framework for its diagnosis and management.
