Prolonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome

Pseudo-Bartter/Gitelman syndrome (PBS/PGS) is caused by medication and lifestyle factors, leading to hypokalemia and potentially impairing kidney function. Treatment primarily involves eliminating the underlying causes, which typically results in rapid improvement. However, PBS/PGS findings may persist long after the removal of causative factors, and its pathogenesis remains unclear.

This study focused on 49 cases diagnosed with PBS/PGS. All cases presented with hypokalemia, attributed to apparent causes, and comprehensive genetic testing detected no pathogenic variants associated with hereditary kidney diseases. They were categorized into two groups: the current group (n = 39), where causative factors persisted, and the past group (n = 10), where more than 1 year had elapsed since the elimination of the causative factors at the time of examination. A retrospective comparative analysis was conducted between these groups.

All patients were female, except for two in the current group. The median time since the elimination of causes in the past group was 7.5 years. Hypokalemia and kidney dysfunction were observed in both groups without statistically significant differences. Both groups exhibited overactivation of renin-angiotensin systems.

This study is the first to reveal the possibility of persistent PBS/PGS findings even after the removal of causative factors. While swift removal of the cause of PBS/PGS is crucial, long-term post-removal monitoring is essential to improve renal prognosis.