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Published on: June 23, 2015
Exploring the genetic basis of early-onset chronic kidney disease
Asaf Vivante1,2, Friedhelm Hildebrandt1
1Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.
Insights
Early-onset chronic kidney disease (CKD) in children is often caused by genetic mutations. Next-generation sequencing aids in diagnosing these rare conditions, paving the way for personalized treatments.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Genomic Medicine
Background:
- Chronic kidney disease (CKD) in children presents different etiological factors compared to adults.
- Congenital anomalies of the kidneys and urinary tract, steroid-resistant nephrotic syndrome, chronic glomerulonephritis, and renal cystic ciliopathies account for over 70% of early-onset CKD.
- Over 200 monogenic genes have been implicated in early-onset CKD.
Purpose of the Study:
- To review the implications of next-generation sequencing (NGS) in the clinical genetic diagnostics of early-onset CKD.
- To highlight the discovery of novel genes contributing to pediatric CKD.
- To discuss the potential for deciphering disease mechanisms and informing personalized therapeutic strategies.
Main Methods:
- Review of recent findings and advancements in high-throughput sequencing technologies.
- Analysis of the role of genetic mutations in over 200 identified monogenic genes.
- Discussion of the application of genetic analyses in early-onset CKD patient cohorts.
Main Results:
- High-throughput sequencing has made the identification of causative mutations in numerous genes feasible.
- Genetic analyses provide molecular diagnoses for patients and families.
- New insights into disease mechanisms and potential for aetiology-based classifications are emerging.
Conclusions:
- Next-generation sequencing is revolutionizing the diagnosis and understanding of early-onset CKD.
- Molecular genetic diagnoses facilitate personalized prevention and treatment approaches.
- Further research into genetic underpinnings of pediatric CKD holds significant therapeutic promise.
Abstract:
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in adults. In the USA the most common diagnostic groups of renal disease that manifest before the age of 25 years are congenital anomalies of the kidneys and urinary tract, steroid-resistant nephrotic syndrome, chronic glomerulonephritis and renal cystic ciliopathies, which together encompass >70% of early-onset CKD diagnoses. Findings from the past decade suggest that early-onset CKD is caused by mutations in any one of over 200 different monogenic genes. Developments in high-throughput sequencing in the past few years has rendered identification of causative mutations in this high number of genes feasible. Use of genetic analyses in patients with early onset-CKD will provide patients and their families with a molecular genetic diagnosis, generate new insights into disease mechanisms, facilitate aetiology-based classifications of patient cohorts for clinical studies, and might have consequences for personalized approaches to the prevention and treatment of CKD. In this Review, we discuss the implications of next-generation sequencing in clinical genetic diagnostics and the discovery of novel genes in early-onset CKD. We also delineate the resulting opportunities for deciphering disease mechanisms and the therapeutic implications of these findings.
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