ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Increased risk of kidney failure in patients with genetic kidney disorders.The Journal of clinical investigation · 2024Trial
- Clinical Utility of Standardized Genetic Testing in Kidney Transplant Candidate Evaluation.Transplantation direct · 2026Article
- Genetic Testing in the Management of Adult CKD.Journal of the American Society of Nephrology : JASN · 2026Article
- Gene modification: Exploring the potential in treating kidney diseases.Pharmacological research · 2026Review
- Genetic screening in kidney transplant candidates.Clinical kidney journal · 2026Article
- Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.Clinical genetics · 2026Observational
- Efficient kidney gene transfer and proximal tubule transduction using self-complementary AAV.cc47 vectors.Molecular therapy. Methods & clinical development · 2025Article
- Non-HLA Genetics and Application to Living Donor Candidates.Current transplantation reports · 2025Article
- Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.Molecular biology reports · 2025Article
- Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.Kidney international reports · 2025Article
- Integrated AAV optimization enables efficient gene delivery to kidney in murine and human tissue.Research square · 2025Article
- Autosomal dominant focal segmental glomerulosclerosis by INF2 p.Arg218Trp and p.Ser186Pro mutations: three case reports and literature review.BMC nephrology · 2025Review
- Evolving adeno-associated viruses for gene transfer to the kidney via cross-species cycling of capsid libraries.Nature biomedical engineering · 2025Article
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease in Children and Adults: a commentary from the European Renal Best Practice (ERBP).Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Article
- Evaluation for genetic disease in kidney transplant candidates: A practice resource.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2025Review
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic kidney disease (CKD) is a major health-care burden. Increasing evidence suggests that a considerable proportion of patients are affected by a monogenic kidney disorder.
methodsIn this study, the kidney transplantation waiting list at the Charité was screened for patients with undetermined cause of CKD. By next-generation sequencing (NGS) we targeted all 600 genes described and associated with kidney disease or allied disorders.
resultsIn total, 635 patients were investigated. Of these, 245 individuals had a known cause of CKD (38.5%) of which 119 had a proven genetic disease (e.g., ADPKD, Alport). The other 340 patients (53.5%) were classified as undetermined diagnosis, of whom 87 had kidney failure (KF) onset <40 years. To this latter group genetic testing was offered as well as to those patients (n = 29) with focal segmental glomerulosclerosis (FSGS) and all individuals (n = 21) suspicious for thrombotic microangiopathy (TMA) in kidney biopsy. We detected diagnostic variants in 26 of 126 patients (20.6%) of which 14 of 126 (11.1%) were pathogenic or likely pathogenic. In another 12 of 126 (9.5%) patients, variants of unknown significance (VUS) were detected.
conclusionOur study demonstrates the diagnostic value of comprehensive genetic testing among patients with undetermined CKD.
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