ArticleKidney international reports2024
Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.
Article in Kidney international reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Screening for genetic kidney diseases in a dialysis cohort via exome sequencing.Clinical kidney journal · 2026Article
- Molecular frontiers in hemodialysis: unraveling the role of membranes in gene expression, epigenetics, and inflammatory pathways.International urology and nephrology · 2025Review
- Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.Biomedicines · 2025Article
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Review
- Acute Kidney Injury and Chronic Kidney Disease Associated with a Genetic Defect: A Report of Two Cases.International journal of molecular sciences · 2025Article
- Ameliorative Effect of an Anti-MicroRNA-21 Oligonucleotide on Animal and Human Models of Cystic Kidney Disease.Kidney360 · 2025Article
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20 authors.
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Abstract
Introduction: Kidney disease of unknown etiology accounts for 1 in 10 adult end-stage renal disease (ESRD) cases worldwide. The aim of this study is to clarify the genetic background of patients with chronic kidney disease (CKD) of unknown etiology who initiated renal replacement therapy (RRT) in adulthood. Methods: This is a multicenter cross-sectional cohort study. Of the 1164 patients who attended 4 dialysis clinics in Japan, we first selected patients who started RRT between the ages of 20 and 49 years. After excluding patients with apparent causes of CKD (e.g., diabetic nephropathy, polycystic kidney disease (PKD) with family history, patients who underwent renal biopsy), 90 patients with CKD of unknown cause were included. The 298 genes associated with CKD were analyzed using capture-based targeted next-generation sequencing. Results: Of the 90 patients, 10 (11.1%) had pathogenic variants in CKD-causing genes and 17 (18.9%) had variant of unknown significance (VUS). Three patients had Conclusion: This largest study on genetic analysis in hemodialysis-dependent adults revealed the presence of undiagnosed inherited kidney diseases.
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