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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.
Gitelman syndrome is a recessive salt-losing tubulopathy characterized by renal potassium and magnesium wasting, hypocalciuria, and metabolic alkalosis. Although typically detected during adolescence or early adulthood, clinical severity and age of onset vary widely. We report an atypical late clinical presentation in a young adult with a homozygous pathogenic SLC12A3 variant, illustrating the phenotypic variability of this condition.
A 29-year-old woman was evaluated for progressive generalized weakness and lifelong salt craving, which had not previously prompted diagnostic evaluation. Four to five months prior to presentation, she developed worsening symptoms following an acute diarrheal illness. Laboratory studies showed marked hypokalemia requiring hospitalization, with concurrent hypomagnesemia and hypocalciuria. Urinary electrolyte assessment confirmed renal potassium wasting. Diuretic misuse was ruled out. Due to the biochemical profile, genetic testing was pursued using a comprehensive exome sequencing panel with CNV and adjacent intronic region analysis.
Germline molecular testing identified a homozygous variant in the SLC12A3 gene (NM_000339.2): c.2576T>C (p.Leu859Pro). This variant is classified as pathogenic according to ACMG criteria (PM2, PM1, PP3, PP5), confirming the diagnosis of Gitelman syndrome. The patient was initially started on high-dose intravenous oral potassium and magnesium supplementation together with spironolactone, resulting in significant improvement in muscular weakness and complete resolution of salt craving. This case is notable for a clinically relevant phenotype emerging in late young adulthood despite long-standing subclinical manifestations, underscoring the diagnostic challenge of atypical age at presentation.
This case illustrates the broad phenotypic spectrum of Gitelman syndrome and emphasizes the importance of molecular testing when clinical suspicion persists despite atypical age of onset. Early genetic confirmation allowed targeted therapy and appropriate family counseling, highlighting the relevance of precision medicine in rare tubulopathies.
