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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.
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Primary hyperoxaluria type I is an extremely rare disorder, affecting between 1 and 3 patients per million in Europe. It is caused by a deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), leading to excessive urinary oxalate excretion and subsequent nephrolithiasis.
We present a case series of four patients diagnosed and monitored in our department between 2022 and 2025. Three patients were first-degree relatives—a 45-year-old mother, a 48-year-old father, and their 13-year-old daughter—while the fourth was a 14-year-old male patient without identifiable familial aggregation. The family history of the 13-year-old revealed several affected individuals on both the maternal and paternal sides. In contrast, the male patient had no family history of similar disease. In his case, the coexistence of a complex renal malformation initially delayed diagnosis, as the structural anomaly was pre
The three related patients presented with multiple episodes of recurrent nephrolithiasis, whereas the unrelated male patient exhibited a single large calculus and severe concurrent epilepsy, complicating his clinical picture. Genetic analysis of the AGXT gene identified the same heterozygous variant (c.-169G>A) in the mother and daughter, affecting the 5′ untranslated region (transcript leader) of the mRNA. The father carried the c.31C>G (p.Pro11Ala) heterozygous variant, which was also present in the daughter. In the unrelated male patient, a pathogenic homozygous variant, c.508G>A (p.Gly170Arg), consistent with primary hyperoxaluria type I, was detected. Based on the genetic findings and clinical presentation, treatment with lumasiran, a synthetic small interfering RNA that reduces hepatic oxalate production, was initiated in three patients, resulting in favourable clinical evolution during follow-up. The adult male patient declined treatment.
Due to its very low prevalence and nonspecific clinical features, primary hyperoxaluria type I requires a high index of suspicion for timely diagnosis. Comprehensive genetic testing is crucial for confirmation, and the introduction of lumasiran has markedly improved the prognosis of affected individuals.
