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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.
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by hepatic alanine-glyoxylate aminotransferase (AGXT) deficiency. This defect leads to overproduction of endogenous oxalate, resulting in recurrent kidney stones, nephrocalcinosis, and eventually kidney failure. After stage 3 CKD, systemic oxalate accumulation, often reaching kilograms quantities, occurs primarily in the skeleton and other organs. However, many patients unfortunately, receive a diagnosis only after progressing to end-stage kidney disease (ESKD).
A woman in her 40s presented with her first episode of a right renal calculus at age 20. At age 34, she experienced recurrence and underwent percutaneous nephrolithotomy, which confirmed calcium oxalate stones. Between years X–7 and X–5, she underwent eight endoscopic combined intrarenal surgeries and one transurethral lithotripsy for bilateral urolithiasis. A CT scan showed bilateral staghorn calculi and left renal atrophy, and complete stone removal was considered unfeasible. Her serum creatinine progressively increased from 2.36 mg/dL (year X–2) to 5.25 mg/dL (year X), leading to the initiation of dialysis. Given her young onset and recurrent urolithiasis, primary hyperoxaluria was suspected. Genetic testing identified two heterozygous AGXT variants, confirming the diagnosis of PH1; her sister was found to be a carrier of one variant, consistent with a compound heterozygous case. While the patient desired living donor kidney transplantation from her sister, kidney transplantation alone is not recommended due to the high risk of PH1 recurrence. Consequently, peritoneal dialysis was initiated.
In Japan, 59 PH1 cases were reported from 1962 to 2003, with an estimated prevalence of 1 in 209,357 globally (Am J Nephrol 2005, Clin Kidney J 2025). Early diagnosis is critical, as delayed recognition frequently leads to progression to ESKD. Promising approaches to prevent systemic oxalate accumulation and progressive kidney failure include combined liver–kidney transplantation and novel siRNA-based therapies. Unfortunately, the limited availability of deceased donors in Japan makes combined liver–kidney transplantation challenging. Moreover, siRNA-based therapy has not yet been approved for insurance.
Genetic evaluation should be strongly considered in all patients with recurrent urolithiasis presenting from a young age to facilitate early PH1 diagnosis and appropriate therapeutic intervention. Furthermore, improved access to combined liver and kidney transplants and siRNA-based drugs is essential to optimize outcomes for PH1 patients in Japan.
