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首页> 外文期刊>American Journal of Physiology >Salt handling in the distal nephron: lessons learned from inherited human disorders.
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Salt handling in the distal nephron: lessons learned from inherited human disorders.

机译：远端肾中的盐处理：从遗传性人类疾病中学到的经验教训。

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摘要

The molecular basis of inherited salt-losing tubular disorders with secondary hypokalemia has become much clearer in the past two decades. Two distinct segments along the nephron turned out to be affected, the thick ascending limb of Henle's loop and the distal convoluted tubule, accounting for two major clinical phenotypes, hyperprostaglandin E syndrome and Bartter-Gitelman syndrome. To date, inactivating mutations have been detected in six different genes encoding for proteins involved in renal transepithelial salt transport. Careful examination of genetically defined patients ("human knockouts") allowed us to determine the individual role of a specific protein and its contribution to the overall process of renal salt reabsorption. The recent generation of several genetically engineered mouse models that are deficient in orthologous genes further enabled us to compare the human phenotype with the animal models, revealing some unexpected interspecies differences. As the first line treatment in hyperprostaglandin E syndrome includes cyclooxygenase inhibitors, we propose some hypotheses about the mysterious role of PGE(2) in the etiology of renal salt-losing disorders.
机译：在过去的二十年中，继发性低钾血症的遗传性失盐性肾小管疾病的分子基础变得更加清晰。结果发现，沿肾单位的两个截然不同的部分受到了影响，即亨利s环的粗大上升肢体和向远端弯曲的小管，这是两种主要的临床表型，即前列腺素E综合征和Bartter-Gitelman综合征。迄今为止，已经在编码肾上皮盐转运的蛋白质的六个不同基因中检测到失活突变。仔细检查基因定义的患者（“人类基因敲除”）使我们能够确定特定蛋白质的个体作用及其对肾盐重吸收整个过程的贡献。缺乏直系同源基因的几种基因工程小鼠模型的最近一代进一步使我们能够将人的表型与动物模型进行比较，揭示出一些意想不到的种间差异。由于高前列腺素E综合征的一线治疗包括环氧合酶抑制剂，因此我们提出了一些关于PGE（2）在肾盐丢失疾病的病因学中的神秘作用的假设。

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