遗传性肾脏疾病的肾外表现。

IF 4.8 2区 医学 Q1 TRANSPLANTATION Nephrology Dialysis Transplantation Pub Date : 2024-08-02 DOI:10.1093/ndt/gfae176
Julia Hoefele, Julian Eble, Tobias Hermle, Matthias Wuttke, Ulla T Schultheiss
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引用次数: 0

摘要

单基因肾病是由大量携带致病变异基因的潜在基因引起的。这些疾病主要表现为肾脏疾病,即肾脏结构和/或功能受损。然而,这些遗传性疾病的影响远远超出了肾脏的范围,会引起多种多样的肾外表现。这些表现可影响全身任何器官系统,导致复杂的临床表现,需要对患者进行全面了解和跨学科管理。遗传变异、分子途径和系统相互作用之间错综复杂的相互作用凸显了探索遗传性肾脏疾病肾外方面的重要性。这种探索不仅加深了我们对疾病本身的理解,还为更全面的诊断、治疗策略和改善跨学科患者护理开辟了途径。本文深入探讨了遗传性肾脏疾病肾外表现的复杂领域,揭示了这些遗传性疾病在肾脏系统之外可能产生的深远影响。
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Extrarenal manifestations in inherited kidney diseases.

Monogenic kidney diseases result from an abundance of potential genes carrying pathogenic variants. These conditions are primarily recognized for manifesting as kidney disorders, defined as an impairment of the structure and/or function of the kidneys. However, the impact of these genetic disorders extends far beyond the kidneys, giving rise to a diverse spectrum of extrarenal manifestations. These manifestations can affect any organ system throughout the body, leading to a complex clinical presentation that demands a comprehensive understanding and interdisciplinary management of affected persons. The intricate interplay between genetic variants, molecular pathways, and systemic interactions underscores the importance of exploring the extrarenal aspects of inherited kidney diseases. This exploration not only deepens our comprehension of the diseases themselves but also opens avenues for more holistic diagnostics, treatment strategies, and improved interdisciplinary patient care. This article delves into the intricate realm of extrarenal manifestations in inherited kidney diseases, shedding light on the far-reaching impacts that these genetic conditions can exert beyond the confines of the kidney system.

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来源期刊
Nephrology Dialysis Transplantation
Nephrology Dialysis Transplantation 医学-泌尿学与肾脏学
CiteScore
10.10
自引率
4.90%
发文量
1431
审稿时长
1.7 months
期刊介绍: Nephrology Dialysis Transplantation (ndt) is the leading nephrology journal in Europe and renowned worldwide, devoted to original clinical and laboratory research in nephrology, dialysis and transplantation. ndt is an official journal of the [ERA-EDTA](http://www.era-edta.org/) (European Renal Association-European Dialysis and Transplant Association). Published monthly, the journal provides an essential resource for researchers and clinicians throughout the world. All research articles in this journal have undergone peer review. Print ISSN: 0931-0509.
期刊最新文献
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