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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.
Some patients with genetically confirmed Gitelman syndrome (GS) experience significant symptoms affecting quality of life (QOL), but few studies compare them with GS-like cases lacking pathogenic variants. This condition, referred to as pseudo-Gitelman syndrome (pseudo-GS), may result from chronic laxative use or appetite loss, but is also observed in some underweight women without an identifiable cause. Understanding symptom burden in both groups is essential for optimizing patient care.
We conducted a cross-sectional study of patients clinically suspected of GS who underwent genetic testing. At the time of testing, patients over 10 years old completed a 21-item self-reported questionnaire assessing salt craving, sweet taste aversion, urinary frequency, muscle symptoms, and nonspecific complaints. Each item was scored from 0 to 4, and total symptom scores were calculated. Patients aged 10 or younger were excluded, as they were considered unable to reliably complete the questionnaire. Patients with heterozygous variants in SLC12A3 or with pathogenic variants in other tubulopathy-related genes were excluded. The remaining patients were classified into two groups: those with biallelic pathogenic SLC12A3 variants (GS group) and those without identifiable pathogenic variants (pseudo-GS group). We compared total scores between the two groups and analyzed symptom-score correlations within the GS group.
Among 153 patients aged 10 years or older who were asked to complete the questionnaire, 142 (92.8%) responded. Of these, 66 were included in the GS group and 62 in the pseudo-GS group after excluding 10 patients with heterozygous SLC12A3 variants, 3 with type 3 Bartter syndrome, and 1 with HNF1β-associated kidney disease. There was no statistically significant difference in total symptom scores between the GS and pseudo-GS groups. Salt craving during early childhood, sweet taste aversion, and the presence and duration of nocturnal enuresis were significantly more common in the GS group. In contrast, muscle symptoms and nonspecific complaints were significantly more severe in the pseudo-GS group. Within the GS group, patients over 20 years of age had significantly higher total scores, particularly for muscle and nonspecific symptoms.
Patients without pathogenic variants exhibited a symptom burden comparable to those with GS. Notably, childhood salt craving, sweet taste aversion, and a history of nocturnal enuresis may serve as clinical clues strongly indicative of GS. In GS, symptoms—especially nonspecific ones—worsened with age, suggesting lower QOL in adulthood. This abstract was also submitted for the Kidney Week 2025 and APCN 2025.
