2024/08/02 by Julia Hoefele, Julian Eble, Tobias Hermle +2 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Renal Diseases and Glomerulopathies #Renal and related cancers #Renal cell carcinoma treatment
paper · pdf · doi:10.1093/ndt/gfae176
openalex publication_date 2024/08/02 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.