Suppr超能文献

遗传性肾脏疾病的肾外表现

Extrarenal manifestations in inherited kidney diseases.

作者信息

Hoefele Julia, Eble Julian, Hermle Tobias, Wuttke Matthias, Schultheiss Ulla T

机构信息

Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.

Institute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.

出版信息

Nephrol Dial Transplant. 2025 Feb 4;40(2):227-233. doi: 10.1093/ndt/gfae176.

Abstract

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 effects that these genetic conditions can exert beyond the confines of the kidney system.

摘要

单基因肾病源于大量携带致病变异的潜在基因。这些病症主要因表现为肾脏疾病而被认识,肾脏疾病被定义为肾脏结构和/或功能的损害。然而,这些遗传疾病的影响远远超出肾脏,引发了各种各样的肾外表现。这些表现可影响全身的任何器官系统,导致复杂的临床表现,这需要对患者进行全面了解和跨学科管理。遗传变异、分子途径和全身相互作用之间的复杂相互作用突出了探索遗传性肾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道路。本文深入探讨遗传性肾病中肾外表现的复杂领域,揭示这些遗传病症在肾脏系统范围之外可能产生的深远影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc21/11792654/a04f0e2c3aba/gfae176fig1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验