摘要/Abstract

摘要： 遗传性肾小管病在肾脏离子转运机制中发挥着重要作用。低钾失盐性肾小管病（ hypokalemic salt-losing tubulopathies，SLTs）是一组罕见的，以低钾血症、代谢性碱中毒、血压正常或偏低、高肾素血症、高醛固酮血症为主要临床表现的遗传性疾病。 Bartter综合征和 Gitelman综合征是 SLTs中较常见的 2种类型，二者分别累及髓袢升支粗段和 /或远曲小管。 SLTs临床表现复杂多样，不同类型 SLTs患者的临床表现存在一定的重叠；且随着新的致病基因陆续被发现，旧的 SLTs疾病分型显得较为混乱，不利于 SLTs的诊断及治疗。该文对新发现的 SLTs致病基因及其可能的致病机制进行综述，并介绍了基于生理学和药理学的 SLTs新的分类方法。
关键词: Bartter综合征, Gitelman综合征, 失盐性肾小管病
Abstract:
Hereditary tubular disorders play an important role in the ion transport mechanism of kidney. Hypokalemic salt-losing tubulopathies (SLTs) are a set of rare hereditary diseases, which accompany with hypokalaemic metabolic alkalosis, normo or hypotension, and are associated with high plasma renin activity and hyperaldosteronemia. Bartter syndrome and Gitelman syndrome, characterizedthe disability of the thick ascending limb of Henles loop and/or the distal convoluted tubule, respectively, are two common types of SLTs. Some types of SLTs share similar clinical manifestations, making them difficult to diagnose. Besides, with the development of molecular genetics, new disease-causing genes have been discovered. Its inconvenient for clinicians to refer to the old classification of SLTs. The review mainly covered the newly discovered pathogenic genes of SLTs and the corresponding pathogenic mechanisms. In addition, a new system for classification of SLTs based on physiology and pharmacology was introduced.
Key words: Bartter syndrome, Gitelman syndrome, salt-losing tubulopathy


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