PDF(Pubmed)
Abstract：
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions. Patients suffer from deficiencies in the concentration of electrolytes in the blood and urine, which leads to different systemic consequences related to these salt-wasting processes. The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having a different molecular etiology, Gitelman and Bartter syndromes share a relevant number of clinical symptoms, and they have similar therapeutic approaches. The main basis of their treatment consists of electrolytes supplements accompanied by dietary changes. Specifically for Bartter syndrome, the use of non-steroidal anti-inflammatory drugs is also strongly supported. This review aims to address the latest diagnostic challenges and therapeutic approaches, as well as relevant recent research on the biology of the proteins involved in disease. Finally, we highlight several objectives to continue advancing in the characterization of both etiologies.
摘要：
Gitelman和Bartter综合征是罕见的遗传性疾病，属于肾小管疾病。与这些病理相关的基因编码位于肾单位的电解质转运蛋白，特别是在Henle的远端缠结小管和上升环中。因此,这两种综合征的特征是发生在这些区域的分泌和重吸收过程的改变。患者血液和尿液中电解质浓度不足，这导致了与这些食盐过程相关的不同的系统性后果。这两种综合征的主要临床特征是低钾血症，低氯血症,代谢性碱中毒，高肾素血症和醛固酮增多症。尽管有不同的分子病因，Gitelman和Bartter综合征具有相关的临床症状，他们有类似的治疗方法。他们治疗的主要基础包括伴随饮食变化的电解质补充剂。特别是针对巴特综合征，非甾体抗炎药的使用也得到了大力支持.这篇综述旨在解决最新的诊断挑战和治疗方法，以及与疾病有关的蛋白质生物学的相关最新研究。最后,我们强调了继续推进两种病因定性的几个目标.
