Back
For best output, select "Paper Size" as "A4" and "Margin" as "0" or "None".
To save or print to PDF, please select Print Destination > Save as PDF, enable Background Graphics under "More Settings", then click "Save".
During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Autosomal Dominant Tubulointerstitial Kidney Disease caused by MUC1 (ADTKD-MUC1) is a progressive inherited kidney disease often characterized by slow decline in kidney function and subtle or absent urinary findings. Its definitive diagnosis requires genetic analysis, which is frequently complicated by the unique, repetitive genomic structure of the MUC1 gene.
A 29-year-old woman was referred to our hospital due to hypertension and newly diagnosed renal dysfunction (serum creatinine 1.13 mg/dL) identified during a routine medical check-up. Urinalysis was negative for both proteinuria and hematuria, and no urinary sediment abnormalities were observed. Renal magnetic resonance imaging revealed small cysts localized to the corticomedullary junction. The patient’s family history was highly suggestive of a hereditary disease: her maternal grandmother died of toxemia of pregnancy, and her mother developed end-stage renal disease requiring hemodialysis in her 30s.
A renal biopsy showed evidence of chronic tubulointerstitial damage, including severe tubular atrophy, focal irregular tubular dilatation, and irregular multilayering of the tubular basement membrane. Glomerular findings included global segmental sclerosis in 19 out of 28 sampled glomeruli, with the remaining glomeruli appearing unremarkable. Initial genetic testing using a short-read sequencer gene panel failed to identify a pathogenic variant. Subsequent targeted genetic analysis of the MUC1 gene's variable number tandem repeat (VNTR) region, performed with a long-read sequencer, identified a cytosine (C) insertion in the ninth repeat unit. This variant in the 60 base pair repeat sequence is consistent with previously reported pathogenic mutations for ADTKD-MUC1, leading to a definitive diagnosis.
Genetic analysis is essential for the diagnosis of ADTKD. However, the complex VNTR region of the MUC1 gene is notoriously difficult to analyze using conventional Sanger or short-read sequencing. This case demonstrates that in patients strongly suspected of having ADTKD—based on family history and progressive renal dysfunction without significant urinary findings—where standard genetic panels are inconclusive, specialized testing utilizing long-read sequencing is necessary to detect variants in the MUC1 VNTR region and achieve a final diagnosis.This abstract was also submitted for the 55th Western Regional Meeting of the Japanese Society of Nephrology.
