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.
WT1-related disorders are autosomal dominant disorders exhibiting diverse clinical presentations depending on the location of the WT1 variant. In Japan, WT1 is the most frequent causative gene among children presenting with proteinuria, underscoring the clinical importance of this disorder. Among the various clinical phenotypes of WT1-related disorders, two well-known syndromes are Denys-Drash syndrome (DDS) and Frasier syndrome (FS). DDS, typically associated with missense variants in exons 8 and 9, presents in infancy with rapidly progressive kidney disease, Wilms tumor, and disorders of sex development. In contrast, FS, usually associated with variants in intron 9, is characterized by slowly progressive kidney disease, disorders of sex development, and gonadal tumors. Most cases progress to end-stage kidney disease during childhood. However, some reports suggest that calcineurin inhibitors (CNI) may reduce proteinuria, but the evidence is still limited and largely anecdotal. WT1-related disorders therefore represent an important target for therapeutic investigation. This study examined CNI usage patterns and responsiveness in cases diagnosed and analyzed at our center through a multi-institutional collaboration.
We retrospectively reviewed patient background, treatment details, CNI use, and responsiveness in 47 patients with genetically diagnosed WT1-related disorders from April 2016 to September 2025. Cases were collected through collaboration with multiple institutions and analyzed at our center.
The median age at genetic diagnosis was 9.0(range 2.8-16.0) years. Based on variant type and location, the cohort included 21 patients (45%) with missense variants in exons 8 or 9, 15 (32%) with splice-site variants in intron 9, 5 (11%) with nonsense variants in exons 8 or 9, and 6 (13%) with other variants. The median age at proteinuria onset was 3.0(0.8-4.0) years and 21 patients (45%) had concomitant nephrotic syndrome. At the time of genetic diagnosis, 20 patients (49%) had reached end-stage kidney disease (ESKD), with a median age of 1.8 (0.3-8.6) years at ESKD onset. Steroid use was observed in 23 patients (49%), and CNI use in 16 patients (34%). The CNI users included 14 patients on cyclosporine and 2 patients on tacrolimus. The reason for CNI use was steroid-resistant nephrotic syndrome in 12 patients and in 2 patients based on other clinical indications. The median age at CNI initiation was 3.0 (2.0-4.5) years. Among CNI users, 9 patients (56%) achieved remission: 5 complete remissions and 4 partial remissions. Among the 9 patients who achieved remission, 4 (44%) had missense variants in exon 8 or 9, 3 (33%) had splice-site variants in intron 9, and 2 (22%) had nonsense variants in exon 8 or 9.
In this study, CNI was used in 34% of patients with WT1-related disorders, and a reduction in urinary protein was observed in half of these patients. This study represents one of the largest multi-institutional cohorts of WT1-related disorders analyzed to date. These findings provide descriptive data on treatment patterns and outcomes, and further studies are required to determine the long-term clinical significance of CNI use.
