CASE COMMUNICATIONS
IMAJ | volume 26
Journal 9, October 2024
pages: 591-592
A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman
1 Department of Nephrology, Shaare Zedek Medical Center, affiliated with Hadassah–Hebrew University School of Medicine, Jerusalem, Israel
2 Digestive Diseases Institute, Shaare Zedek Medical Center, Jerusalem, Israel
3 Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel
4 Department of Nephrology and Hypertension, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel
5 Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Summary
Hypokalemia is a frequently encountered electrolyte disturbance, particularly among hospitalized patients. It often arises from increased potassium excretion (via the kidney or gastrointestinal tract) or intracellular shifts [1]. Hypokalemic periodic paralysis (HPP) is an uncommon cause of hypokalemia, with the most common reported mutation found in the dihydropyridine-sensitive calcium channel in skeletal muscles (CACNA1S gene) [2]. We present a case of a young woman with HPP associated with a novel mutation in the chloride voltage-gated channel 1 (CLCN1) gene.