ArticleAmerican journal of nephrology2022
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Article in American journal of nephrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 55 citations in OpenAlex.
- Genetic Evaluation Practices in Living Kidney Donor Candidates.Kidney international reports · 2026Article
- Prevalence and Genetic Spectrum of Inherited Kidney Diseases: A Chinese Cohort Study.Kidney360 · 2026Article
- Multimodal predictions of end stage chronic kidney disease from asymptomatic individuals for discovery of genomic biomarkers.BMC nephrology · 2026Article
- Clinical Utility of Standardized Genetic Testing in Kidney Transplant Candidate Evaluation.Transplantation direct · 2026Article
- Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.MedScience · 2026Article
- Genetic Testing in the Management of Adult CKD.Journal of the American Society of Nephrology : JASN · 2026Article
- Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.Clinical case reports · 2026Article
- Screening for genetic kidney diseases in a dialysis cohort via exome sequencing.Clinical kidney journal · 2026Article
- Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.Clinical genetics · 2026Observational
- MUC20 alleviates kidney fibrosis by modulating pyroptosis through the MET/RAS/STING axis.Theranostics · 2026Article
- Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.Molecular biology reports · 2025Article
- Structure and Function of the Extracellular Matrix in Normal and Pathological Conditions: Looking at the Bicuspid Aortic Valve.International journal of molecular sciences · 2025Review
- Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.Seminars in nephrology · 2025Review
- Patient Satisfaction Following a Session With a Kidney Genetic Counselor.Kidney international reports · 2025Article
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Characterization of Monogenic Kidney Disease in Older Patients With CKD.Kidney international reports · 2025Article
- Comparative validation of the Mayo Clinic imaging classification and PROPKD score for predicting ADPKD progression across diverse ethnic cohorts.Journal of nephrology · 2025Article
- Genetic Testing in Biopsy-Confirmed Kidney Disease.Kidney medicine · 2025Article
- Role of Comprehensive Renal Genetic Testing in Diagnosing aClinical case reports · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionChronic kidney disease (CKD) is a major public health issue in the USA. Identification of monogenic causes of CKD, which are present in ∼10% of adult cases, can impact prognosis and patient management. Broad gene panels can provide unbiased testing approaches, which are advantageous in phenotypically heterogeneous diseases. However, the use and yield of broad genetic panels by nephrologists in clinical practice is not yet well characterized.
methodsRenal genetic testing, ordered exclusively for clinical purposes, predominantly by general and transplant nephrologists within the USA, was performed on 1,007 consecutive unique patient samples. Testing was performed using a commercially available next-generation sequencing-based 382 gene kidney disease panel. Pathogenic (P) and likely pathogenic (LP) variants were reported. Positive findings included a monoallelic P/LP variant in an autosomal dominant or X-linked gene and biallelic P/LP variants in autosomal recessive genes.
resultsPositive genetic findings were identified in 21.1% (212/1,007) of cases. A total of 220 positive results were identified across 48 genes. Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4.1%) genes. Variants identified in the remaining 42 genes comprised 28.6% of the total positive findings, including single positive results in 26 genes. Positive results in >1 gene were identified in 7.5% (16/212) of cases.
conclusionsUse of broad panel genetic testing by clinical nephrologists had a high success rate, similar to results obtained by academic centers specializing in genetics.
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