AI Article Synopsis
- * Out of 90 selected patients, 11.1% were found to have pathogenic genetic variants linked to CKD, and 18.9% had variants of unknown significance.
- * The findings highlight undiagnosed inherited kidney diseases, suggesting a need for genetic testing in patients with CKD where the cause remains unclear.
Article 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 pathogenic variants, and 1 patient had and pathogenic variants. In addition, 2 patients were diagnosed with atypical hemolytic uremic syndrome (aHUS) due to or . One patient each was diagnosed with Alport syndrome due to and variants nephronophthisis due to variants, Fabry disease due to variants, and autosomal-dominant tubulointerstitial kidney disease due to variants. Genetic diagnoses were not concordant with clinical diagnoses, except for patients with variant.
Conclusion: This largest study on genetic analysis in hemodialysis-dependent adults revealed the presence of undiagnosed inherited kidney diseases.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11101786 | PMC |
| http://dx.doi.org/10.1016/j.ekir.2024.01.027 | DOI Listing |
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