ReviewNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2020
Personalized medicine in chronic kidney disease by detection of monogenic mutations.
Review in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 88 citations in OpenAlex.
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Ten tips for the diagnosis and management of nephrotic syndrome.Clinical kidney journal · 2026Review
- Prevalence and Genetic Spectrum of Inherited Kidney Diseases: A Chinese Cohort Study.Kidney360 · 2026Article
- Genetic screening in kidney transplant candidates.Clinical kidney journal · 2026Article
- Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report.Annals of medicine and surgery (2012) · 2026Article
- Characterization of Monogenic Kidney Disease in Older Patients With CKD.Kidney international reports · 2025Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.Pediatric nephrology (Berlin, Germany) · 2025Article
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.Kidney international reports · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Article
- Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Review
- Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).Deutsches Arzteblatt international · 2024Review
- Exploring Adiposity and Chronic Kidney Disease: Clinical Implications, Management Strategies, Prognostic Considerations.Medicina (Kaunas, Lithuania) · 2024Review
- The emerging role of clinical genetics in pediatric patients with chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.Clinical kidney journal · 2024Article
- Genetic and environmental factors driving congenital solitary functioning kidney.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Article
- Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.Frontiers in genetics · 2024Article
- COL4A gene variants are common in children with hematuria and a family history of kidney disease.Pediatric nephrology (Berlin, Germany) · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in origin. To date, ∼450 monogenic (synonymous with single-gene disorders) genes, if mutated, are known to cause CKD, explaining ∼30% of cases in pediatric cohorts and ∼5-30% in adult cohorts. However, there are likely hundreds of additional monogenic nephropathy genes that may be revealed by whole-exome or -genome sequencing. Although the discovery of novel CKD-causing genes has accelerated, significant challenges in adult populations remain due to broad phenotypic heterogeneity together with variable expressivity, incomplete penetrance or age-related penetrance of these genes. Here we give an overview of the currently known monogenic causes for human CKD. We also describe how next-generation sequencing facilitates rapid molecular genetic diagnostics in individuals with suspected genetic kidney disease. In an era of precision medicine, understanding the utility of genetic testing in individuals with a suspected inherited nephropathy has important diagnostic and prognostic implications. Detection of monogenic causes of CKD permits molecular genetic diagnosis for patients and families and opens avenues for personalized treatment strategies for CKD. As an example, detection of a pathogenic mutation in the gene HNF1B not only allows for the formal diagnosis of CKD, but can also facilitate screening for additional extrarenal manifestations of disease, such as maturity-onset diabetes of youth, subclinical abnormal liver function tests, neonatal cholestasis and pancreatic hypoplasia. It also provides the driving force towards a better understanding of disease pathogenesis, potentially facilitating targeted new therapies for individuals with CKD.
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