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Translational research approaches to study pediatric polycystic kidney disease
Max Christoph Liebau1, Djalila Mekahli2,3
1Department of Pediatrics, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. max.liebau@uk-koeln.de.
Insights
Polycystic kidney diseases (PKD), including ARPKD and ADPKD, present variable clinical courses. Research focuses on identifying at-risk patients for emerging therapies, especially in pediatric cohorts.
Area of Science:
- Nephrology
- Genetics
- Pediatric Medicine
Background:
- Polycystic kidney diseases (PKD) encompass ARPKD and ADPKD, genetic kidney disorders with significant clinical variability.
- While ARPKD is common in early childhood, ADPKD often presents in adulthood, though cyst formation begins earlier.
- Understanding the basis of clinical variability and developing prediction markers for disease progression is crucial.
Purpose of the Study:
- To summarize recent developments in PKD research, focusing on kidney involvement in children and adolescents.
- To highlight the importance of identifying patients at risk for rapid progression for emerging targeted therapies.
- To discuss findings from pediatric cohorts and their implications for understanding PKD.
Main Methods:
- Analysis of regional, national, and international PKD patient data collections.
- Integration of clinical observations with genetic studies and biorepositories.
- Application of basic science approaches to elucidate molecular mechanisms in PKD.
Main Results:
- Recent advancements have been made in understanding the clinical variability of ARPKD and ADPKD.
- Pediatric cohorts provide valuable insights into early kidney involvement and disease progression.
- Emerging therapeutic approaches necessitate reliable methods for identifying patients who may benefit from early intervention.
Conclusions:
- Targeted therapies for PKD are advancing, emphasizing the need for early identification of at-risk individuals.
- Continued research integrating clinical, genetic, and molecular data is essential for developing novel therapeutic strategies.
- Focusing on pediatric cohorts is vital for understanding the long-term trajectory and management of PKD.
Abstract:
Polycystic kidney diseases (PKD) are severe forms of genetic kidney disorders. The two main types of PKD are autosomal recessive and autosomal dominant PKD (ARPKD, ADPKD). While ARPKD typically is a disorder of early childhood, patients with ADPKD often remain pauci-symptomatic until adulthood even though formation of cysts in the kidney already begins in children. There is clinical and genetic overlap between both entities with very variable clinical courses. Subgroups of very early onset ADPKD may for example clinically resemble ARPKD. The basis of the clinical variability in both forms of PKD is not well understood and there are also limited prediction markers for disease progression for daily clinical life or surrogate endpoints for clinical trials in ARPKD or early ADPKD.As targeted therapeutic approaches to slow disease progression in PKD are emerging, it is becoming more important to reliably identify patients at risk for rapid progression as they might benefit from early therapy. Over the past years regional, national and international data collections to jointly analyze the clinical courses of PKD patients have been set up. The clinical observations are complemented by genetic studies and biorepositories as well as basic science approaches to elucidate the underlying molecular mechanisms in the PKD field. These approaches may serve as a basis for the development of novel therapeutic interventions in specific subgroups of patients. In this article we summarize some of the recent developments in the field with a focus on kidney involvement in PKD during childhood and adolescence and findings obtained in pediatric cohorts.
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