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...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.展开更多
文摘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.
