Quality of Life and Symptoms in Gitelman Syndrome with and Without Pathogenic Variants

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Background: 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, 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. Methods: We conducted a cross-sectional study of patients clinically suspected of GS who underwent genetic testing. At that time, they completed a 21-item self-reported questionnaire on salt craving and sweetness aversion, urinary frequency, muscle symptoms, and nonspecific complaints. Each item was scored 0–4, and total symptom scores were calculated. Patients were classified into GS and non-GS groups based on the presence or absence of pathogenic variants. Total questionnaire scores were compared between the two groups. We compared total scores between groups and analyzed symptom-score correlations within the GS group. Results: Among 178 patients tested, 159 (89.3%) responded to the questionnaire. These included 79 GS patients (GS group), 63 without pathogenic variants (non-GS Group), 13 with heterozygous SLC12A3 variants, 3 with type 3 Bartter syndrome, and 1 with a variant in another gene. There was no statistically significant difference in the total symptom score between GS group and non-GS Group. Salt craving during early childhood, sweet taste aversion, and a history of nocturnal enuresis were significantly more common in the GS group. In contrast, scores for muscle symptoms and nonspecific complaints were significantly higher in the non-GS group. Within the GS group, patients over 20 years of age showed significantly higher total scores, particularly for muscle symptoms and nonspecific complaints. Conclusion: Patients without pathogenic variants exhibited a symptom burden comparable to those with GS. Notably, childhood salt craving and history of nocturnal enuresis may serve as clinical clues strongly indicative of GS. In GS, symptoms—especially nonspecific—worsened with age, suggesting lower QOL in adults.

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