A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

Abstract

Abstract Background Gitelman syndrome (GS) is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Case presentation We report a rare case of GS with homozygous loss of SLC12A3 presenting with epilepsy. The patient was a 21-year-old female who sought medical attention for seizures. Her condition primarily manifested as epilepsy, diarrhea, and weakness of limbs. Through genetic analysis, we confirmed the diagnosis of this case and formulated a comprehensive approach for its management. Conclusions This case report extends the clinical symptoms of GS and provides a complete family of GS as a reference for subsequent studies.

Keywords

• Gitelman syndrome
• Epilepsy
• Hypokalemia
• SLC12A3