Schurman S J, Shoemaker L R
Department of Pediatrics, University of South Florida College of Medicine, Tampa, USA.
Adv Pediatr. 2000;47:223-48.
Since the initial description in the 1960s of patients with seemingly inherited disorders characterized by hypokalemia and metabolic alkalosis, the pathophysiologic processes underlying Bartter and Gitelman syndromes have generated tremendous study and speculation. Recently described mutations in genes encoding transport proteins important in sodium and chloride reabsorption in the thick ascending limb of Henle and distal convoluted tubule have confirmed these processes as the proximate defects in Bartter and Gitelman syndromes, respectively. Basic understanding of the role of these proteins in normal sodium and chloride homeostasis, and review of the secondary mediators stimulated by loss of their function provide insight into the clinical manifestations and response to treatment observed in these disorders.
自20世纪60年代首次描述了以低钾血症和代谢性碱中毒为特征的看似遗传性疾病患者以来，巴特综合征和吉特曼综合征的病理生理过程引发了大量研究和推测。最近在编码对亨利氏袢升支粗段和远曲小管中钠和氯重吸收起重要作用的转运蛋白的基因中发现的突变，分别证实了这些过程是巴特综合征和吉特曼综合征的直接缺陷。对这些蛋白在正常钠和氯稳态中的作用的基本理解，以及对因它们功能丧失而刺激的继发性介质的回顾，有助于深入了解这些疾病的临床表现和对治疗的反应。
