Utilization of furosemide/hydrochlorothiazide load test in differential diagnosis of Bartter syndrome from Gitelman syndrome in children

VernacularTitle:呋塞米/氢氯噻嗪负荷试验在儿童Bartter综合征和Gitelman综合征鉴别诊断中的应用
Author: Jun ZHANG ; Qiuli CHEN ; Yanhong LI ; Minlian DU ; Huamei MA ; Hongshan CHEN ; Song GUO
Keywords: Bartter syndrome; Gitelman syndrome; furosemide/hydrochlorothiazide load test; gene detection
From: Journal of Clinical Pediatrics 2016;34(12):891-893
CountryChina
Language:Chinese
Abstract: Objective To explore the application of furosemide/hydrochlorothiazide load test in clinical classification of Bartter syndrome and Gitelman syndrome and the significance of selecting target genes. Method The clinical features, biomarkers, the furosemide/hydrochlorothiazide load test, and gene detection in 5 patients with Bartter syndrome and Gitelman syndrome were retrospectively analyzed during 2012 to 2014. Results All of those 5 patients were manifested low potassium and metabolic acidosis; basis of renin, angiotensin II, and aldosterone were elevated. The blood pressures were normal. Most of the patients suffered from polydipsia, diuresis, and different degrees of growth retardation. The gene analysis of these 5 patients made the same diagnoses as furosemide/hydrochlorothiazide load test did. Conclusions Furosemide/hydrochlorothiazide load test can make a differentiation of Bartter syndrome from Gitelman syndrome and thus it can guide the selection of targeted gene detection.