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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 (PH) is a rare group of autosomal recessive metabolic disorders that leads to excessive production of oxalate in the liver, resulting from enzyme deficiencies in glyoxylate metabolism. When assessing recurrent kidney stones, particularly in young patients or those with a family history, it is essential to consider rare genetic or metabolic causes in addition to common risk factors such as diet, dehydration, and hypercalciuria. This study aimed to identify these rare causes of recurrent kidney stones, especially in patients with a family history of such conditions.
A patient with recurrent kidney stones has a genetic evaluation for hereditary lithiasis, which diagnosed him with Primary Hyperoxaluria type 1. Given the family history, two other symptomatic family members (also diagnosed with renal lithiasis) were tested.
Four related patients with genetically confirmed Primary Hyperoxaluria type 1 underwent genetic testing, which revealed AGXT mutations in all cases, specifically the c.508 G>A variant in heterozygous individuals. One patient presented with recurrent kidney stones and urinary tract obstruction, necessitating lithotripsy. The other patients experienced repetitive renal colic due to the presence of microcalculi.
It's important to note that individuals with a single pathogenic variant (simple heterozygotes) are considered carriers. Typically, they do not exhibit the full clinical phenotype because having one functional allele is sufficient for normal glyoxylate metabolism. As a result, the second pathogenic allele may go undetected.
Genetic testing has been expanded, and direct Sanger sequencing confirmed the presence of the variants c.508G>A, c.32C>T, and c.1020A>G in the AGXT gene in a heterozygous state.
Compound heterozygotes often show the same clinical severity as homozygotes. Often clinically equivalent to homozygous mutations. The heterozygous status with one proven pathogenic allele (G170R) plus benign/modifying variants does not fully explain the moderate recurrent lithiasis. However, given the family clustering, this patient may still be part of a compound heterozygous or more complex genotype, not yet fully captured.
