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单基因或孟德尔式高血压概述

Overview of Monogenic or Mendelian Forms of Hypertension.

作者信息

Raina Rupesh, Krishnappa Vinod, Das Abhijit, Amin Harshesh, Radhakrishnan Yeshwanter, Nair Nikhil R, Kusumi Kirsten

机构信息

Department of Nephrology, Cleveland Clinic Akron General, Akron, OH, United States.

Akron Nephrology Associates, Cleveland Clinic Akron General, Akron, OH, United States.

出版信息

Front Pediatr. 2019 Jul 1;7:263. doi: 10.3389/fped.2019.00263. eCollection 2019.

Abstract

Monogenic or Mendelian forms of hypertension are described as a group of conditions characterized by insults to the normal regulation of blood pressure by the kidney and adrenal gland. These alterations stem from single mutations that lead to maladaptive overabsorption of electrolytes with fluid shift into the vasculature, and consequent hypertension. Knowledge of these various conditions is essential in diagnosing pediatric or early-onset adult hypertension as they directly affect treatment strategies. Precise diagnosis with specific treatment regimens aimed at the underlying physiologic derangement can restore normotension and prevent the severe sequelae of chronic hypertension.

摘要

单基因或孟德尔式高血压被描述为一组病症,其特征是肾脏和肾上腺对血压的正常调节受到损害。这些改变源于单一突变,导致电解质适应性过度吸收,并伴有液体转移至血管系统,进而引发高血压。了解这些不同的病症对于诊断儿童或早发性成人高血压至关重要,因为它们直接影响治疗策略。针对潜在生理紊乱采用特定治疗方案进行精确诊断,可恢复血压正常,并预防慢性高血压的严重后遗症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d839/6613461/40d2c6ca4ca6/fped-07-00263-g0001.jpg

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