UO Nefrologia, Azienda Ospedaliero-Universitaria Di Parma, Parma, Italy.
Dipartimento Di Medicina E Chirurgia, Università Di Parma, Via Gramsci 14, 43100, Parma, Italy.
J Nephrol. 2020 Jun;33(3):447-466. doi: 10.1007/s40620-020-00700-9. Epub 2020 Feb 14.
As our understanding of the physiology of the aldosterone-sensitive distal nephron (ASDN) advanced in light of novel acquisitions, mainly pertaining the regulation of key ion channels and transporters by with-no-lysine kinases, the pathophysiology of a variety of conditions affecting this segment of the nephron was partly or fully elucidated as well. The pathophysiology of tubulopathies affecting the ASDN or strictly related nephron segments, and disorders causing aldosteronism, pseudoaldosteronism and pseudohypoaldosteronism are here reviewed. The clinical features, with a strong emphasis on pathophysiology, of a variety of disorders are discussed, including: Liddle, Gordon (and calcineurin inhibitor-related hypertension), and Geller syndrome; apparent mineralocorticoid excess; Bartter and Gitelman syndromes; primary aldosteronism, including familial forms; generalized glucocorticoid resistance (Chrousos syndrome). Moreover, the pharmacological translational potential of such novel acquisitions is briefly discussed.
随着我们对醛固酮敏感的远曲小管（ASDN）生理学的理解的进步，主要涉及无赖氨酸激酶对关键离子通道和转运体的调节，各种影响这部分肾小管的病理生理学也得到了部分或完全阐明。本文综述了影响 ASDN 或严格相关肾单位的肾小管病以及导致醛固酮增多症、假性醛固酮增多症和假低醛固酮血症的疾病的病理生理学。讨论了各种疾病的临床特征，重点强调了病理生理学，包括：Liddle、Gordon（和钙调神经磷酸酶抑制剂相关的高血压）和 Geller 综合征；表观盐皮质激素过多症；Bartter 和 Gitelman 综合征；原发性醛固酮增多症，包括家族形式；全身性糖皮质激素抵抗（Chrousos 综合征）。此外，还简要讨论了这些新发现的药理学转化潜力。
