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Learning Physiology From Inherited Kidney Disorders.
Jenny van der Wijst1, Hendrica Belge1, René J M Bindels1
1Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , The Netherlands ; Institute of Physiology, University of Zurich , Zurich , Switzerland ; and Division of Nephrology, Institute of Experimental and Clinical Research (IREC), Medical School, Université catholique de Louvain, Brussels, Belgium.
Physiological Reviews
|June 20, 2019
Summary
Understanding inherited kidney diseases reveals molecular mechanisms and physiological functions of the kidney. Genetic insights into monogenic kidney disorders offer new therapeutic targets for improved homeostasis.
Area of Science:
- Nephrology
- Molecular Genetics
- Physiology
Background:
- Inherited kidney diseases provide crucial insights into kidney physiology and molecular disease mechanisms.
- Monogenic kidney disorders arise from mutations in diverse genes affecting kidney cell functions.
- Common gene variants linked to these disorders also influence complex traits in the general population.
Purpose of the Study:
- To review how molecular genetics of inherited nephron disorders enhances understanding of kidney transport processes and homeostasis.
- To highlight novel therapeutic targets identified through the study of inherited kidney diseases.
- To discuss specific examples including proximal tubule dysfunction and altered reabsorption of key solutes.
Main Methods:
- Review of literature on molecular genetics of inherited kidney diseases.
- Analysis of gene functions in specialized kidney cell types.
- Integration of findings from genome-wide association studies.
Main Results:
- Identification of genes responsible for monogenic kidney disorders has elucidated kidney physiology.
- Disorders affecting tubular segments reveal insights into transport processes and homeostasis.
- Therapeutic targets for conditions like renal Fanconi syndrome have been identified.
Conclusions:
- Molecular genetics of inherited kidney diseases significantly advances our understanding of kidney function and homeostasis.
- These genetic insights offer promising avenues for developing novel therapeutic strategies.
- Studying these disorders aids in comprehending complex traits and solute handling in the kidney.
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