Research Topic

Genetic Kidney Diseases of Childhood

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Genetic conditions are amongst the most common causes of chronic renal disease and renal failure, especially in children and adolescents. Over the last years there has been outstanding progress in the knowledge about genetic kidney diseases, including the identification of multiple disease-associated genes ...

Genetic conditions are amongst the most common causes of chronic renal disease and renal failure, especially in children and adolescents. Over the last years there has been outstanding progress in the knowledge about genetic kidney diseases, including the identification of multiple disease-associated genes and insights into the cellular pathophysiology. These developments have profoundly changed our understanding of genetic kidney diseases and our therapeutic approaches to (pediatric) patients suffering from these disorders. The aim of the research topic on Genetic Kidney Diseases of Childhood is to give the reader interested in pediatric nephrology a broad overview over the variety of genetic kidney diseases and recent developments in clinical fields, from a research point of view as well as from a patient’s perspective.

Clinically-oriented manuscripts shall help pediatricians in identifying the correct diagnosis and choosing targeted and cost-effective diagnostic approaches as well as up-to-date treatment of genetic kidney diseases presenting in childhood. The scientific part of the research topic is supposed to cover both clinical and basic science research. The genetic basis of hereditary kidney diseases as well as molecular cell biological mechanisms shall be described. We aim to obtain articles from world-leading experts especially in the field of molecular pathways of ciliopathies and podocyte biology, but also for disorders affecting the glomerular basement membrane, the tubular transport system or the complement system. Yet, we want to highlight the importance of basic science for progress within the context of a clinically-oriented research topic. To this end, also high-impact clinical research approaches such as registries on rare diseases or international translational consortia dedicated to certain aspects of pediatric nephrology will be presented. A commentary by the coordinators of the research topic will put some of these approaches into a broader perspective.

To represent the patient’s view on hereditary renal diseases of childhood, patient support groups are encouraged to comment on their expectations regarding research and clinical focus of the field and the daily impact of recent developments. Thus, in summary we aim to approach the diverse field of genetic kidney diseases from multiple angles for readers with a general interest in pediatric nephrology.


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