Genetic disorders of renal electrolyte transport.
Genetic disorders of renal electrolyte transport.
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肾电解质转运的遗传性疾病。
DOI：
10.1056/nejm199904153401507
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
Warnock,DG
中科院分区：
文献类型：
--
作者：
Scheinman,SJ;Guay-Woodford,LM;Thakker,RV;Warnock,DG
在20世纪50年代和60年代，描述了几种遗传性液体和电解质代谢障碍，其中主要障碍似乎是肾小管中的特定功能缺陷。对于这些疾病中的大多数，提出了合理的生理解释，有些比其他更有说服力。在过去的五年中，遗传和分子方法已经阐明了这些疾病中的一些潜在的分子缺陷。在某些情况下，基于最初生理学研究的预测已经得到证实;在其他情况下，分子答案令人惊讶，引发了关于上皮功能生理学的进一步问题。在几个. .. . . .
In the 1950s and 1960s, several inherited disorders of fluid and electrolyte metabolism were described in which the principal disturbance appeared to be a specific functional defect in the renal tubule. For most of these diseases, plausible physiologic explanations were presented, some more convincing than others. In the past five years, genetic and molecular approaches have elucidated the underlying molecular defects in several of these disorders. In some instances, predictions based on the initial physiologic studies have been confirmed; in others, the molecular answer has come as a surprise, raising further questions about the physiology of epithelial function. In several . . .