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巴特综合征概述

Bartter syndrome: an overview.

作者信息

Amirlak I, Dawson K P

机构信息

Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

出版信息

QJM. 2000 Apr;93(4):207-15. doi: 10.1093/qjmed/93.4.207.

Abstract

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.

摘要

巴特综合征这一术语指的是一组具有低钾血症和代谢性碱中毒这一共同特征的肾脏疾病。膜片钳技术使对单离子通道的分析成为可能,增进了我们对所有“类巴特”综合征分子生理病理学的理解。对每种缺陷进行基因定位进一步明确了所涉及的突变及可能的遗传模式。这种深入的理解为治疗开辟了新途径,降低了这些患者的死亡率和发病率。另一组疾病,即“假性巴特综合征”,可能在无原发性肾脏疾病的情况下导致低钾性代谢性碱中毒。需要识别并治疗其潜在疾病。

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