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Extrarenal manifestations in inherited kidney diseases
Julia Hoefele1, Julian Eble2, Tobias Hermle3
1Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.
Summary
Monogenic kidney diseases, caused by gene variants, often affect organs beyond the kidneys. Understanding these extrarenal manifestations is crucial for comprehensive patient care and treatment strategies.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Monogenic kidney diseases arise from pathogenic variants in numerous genes.
- These inherited conditions primarily impair kidney structure and function.
- However, they frequently cause systemic effects impacting multiple organ systems.
Purpose of the Study:
- To explore the spectrum of extrarenal manifestations in monogenic kidney diseases.
- To highlight the importance of understanding systemic effects for patient management.
- To emphasize the need for interdisciplinary care in inherited kidney disorders.
Main Methods:
- Review of existing literature on monogenic kidney diseases and their extrarenal manifestations.
- Analysis of clinical presentations detailing systemic involvement.
- Synthesis of information on genetic basis, molecular pathways, and clinical outcomes.
Main Results:
- Monogenic kidney diseases exhibit a wide range of extrarenal manifestations affecting diverse organ systems.
- These systemic effects contribute to complex clinical presentations.
- Genetic variants can trigger molecular pathways leading to widespread physiological impacts.
Conclusions:
- Inherited kidney diseases have significant extrarenal consequences beyond primary kidney dysfunction.
- Comprehensive assessment and interdisciplinary management are essential for affected individuals.
- Further research into extrarenal manifestations can improve diagnostics and therapeutic strategies.
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