与肾素-血管紧张素-醛固酮系统有关的单基因高血压。

IF 1.4 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS Anatolian Journal of Cardiology Pub Date : 2024-06-14 DOI:10.14744/AnatolJCardiol.2024.4480
Murat Özdede
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引用次数: 0

摘要

与肾素-血管紧张素-醛固酮系统(RAAS)相关的孟德尔型高血压通常被称为单基因高血压,是高血压疾病中罕见但重要的一个亚型,其特点是基因突变破坏了血压调节的正常生理机制。本综述重点阐述影响 RAAS 通路的种系突变导致不同形式的遗传性高血压。通过了解戈登综合征、利德尔综合征、先天性肾上腺皮质增生症和家族性醛固酮增多症等疾病的病理生理基础,本综述旨在强调与这些疾病相关的独特临床特征、诊断难题和治疗意义。识别单基因高血压的特殊临床表现和家族病史对诊断至关重要,尤其是这种疾病通常表现为早发性高血压、血钾和血液 pH 值异常,偶尔还会出现性发育异常或相关综合征。因此,通过下一代测序技术采用有针对性的诊断方法对于确定基因突变的原因、制定准确的个体化治疗方案至关重要。必须强调的是,某些现成的特异性通道阻滞剂(如噻嗪类药物或小剂量皮质类固醇)对治疗这些疾病至关重要,因为它们在预防包括脑血管事件在内的严重并发症方面发挥着关键作用。随着遗传和分子科学的不断进步,对 RAAS 相关单基因高血压发病机制的深入了解有望彻底改变这种复杂疾病的治疗方法,为更有效和个性化的治疗方案带来希望。
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Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.

Mendelian forms of renin-angiotensin-aldosterone system (RAAS)-related hypertension, commonly referred to as monogenic hypertension, represent a rare but significant subset of hypertensive disorders characterized by genetic mutations that disrupt the normal physiological mechanisms of blood pressure regulation. This review focuses on elucidating the germline mutations affecting RAAS pathways that lead to distinct forms of heritable hypertension. By understanding the pathophysiological basis of conditions such as Gordon's syndrome, Liddle syndrome, congenital adrenal hyperplasia, and familial hyperaldosteronism types, this review aims to highlight the unique clinical features, diagnostic challenges, and therapeutic implications associated with these disorders. Recognizing specific clinical presentations and family histories indicative of monogenic hypertension is crucial for diagnosis, particularly as it often manifests as early-onset hypertension, abnormalities in potassium and blood pH, and occasionally, abnormal sexual development or related syndromes. Therefore, employing a targeted diagnostic approach through next-generation sequencing is essential to pinpoint the responsible genetic mutations, enabling accurate and individualized treatment plans. The critical importance of certain readily available specific channel blockers, such as thiazides or low-dose corticosteroids, in managing these disorders must be emphasized, as they play a key role in preventing serious complications, including cerebrovascular events. As advancements in genetic and molecular sciences continue to evolve, a deeper comprehension of the mechanisms underlying RAAS-related monogenic hypertension promises to revolutionize the management of this complex disorder, offering hope for more effective and individualized treatment options.

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来源期刊
Anatolian Journal of Cardiology
Anatolian Journal of Cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
2.30
自引率
7.70%
发文量
270
审稿时长
12 weeks
期刊介绍: The Anatolian Journal of Cardiology is an international monthly periodical on cardiology published on independent, unbiased, double-blinded and peer-review principles. The journal’s publication language is English. The Anatolian Journal of Cardiology aims to publish qualified and original clinical, experimental and basic research on cardiology at the international level. The journal’s scope also covers editorial comments, reviews of innovations in medical education and practice, case reports, original images, scientific letters, educational articles, letters to the editor, articles on publication ethics, diagnostic puzzles, and issues in social cardiology. The target readership includes academic members, specialists, residents, and general practitioners working in the fields of adult cardiology, pediatric cardiology, cardiovascular surgery and internal medicine.
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