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
Background The relationship between serum copper and epilepsy has been elucidated in observational studies.In this study,we aimed to explore the causal relationship between serum copper and epilepsy using Mendelian ra...Background The relationship between serum copper and epilepsy has been elucidated in observational studies.In this study,we aimed to explore the causal relationship between serum copper and epilepsy using Mendelian randomization(MR)analysis.Methods Single nucleotide polymorphisms(SNPs)associated with serum copper were used as instrumental variables for MR analysis to evaluate their causal effects on epilepsy.The main MR results were obtained by using the inverse variance weighting(IVW)method,supplemented by weighted median and MR-Egger regression.In addition,sensitivity analyses such as Cochran’s Q test and pleiotropy test were used to assess these SNPs on epilepsy in terms of horizontal pleiotropy and heterogeneity.Results The IVW method revealed that the serum copper was associated with an increased risk of generalized epilepsy(OR=1.07;95%CI 1.01-1.14;P=0.032),and the sensitivity analysis further supports the robustness of the results.Conclusions The current study reveals a possible causal role for serum copper in increasing the risk of generalized epilepsy,which provide guidance for identifying potential risk factors for epilepsy.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.
文摘Background The relationship between serum copper and epilepsy has been elucidated in observational studies.In this study,we aimed to explore the causal relationship between serum copper and epilepsy using Mendelian randomization(MR)analysis.Methods Single nucleotide polymorphisms(SNPs)associated with serum copper were used as instrumental variables for MR analysis to evaluate their causal effects on epilepsy.The main MR results were obtained by using the inverse variance weighting(IVW)method,supplemented by weighted median and MR-Egger regression.In addition,sensitivity analyses such as Cochran’s Q test and pleiotropy test were used to assess these SNPs on epilepsy in terms of horizontal pleiotropy and heterogeneity.Results The IVW method revealed that the serum copper was associated with an increased risk of generalized epilepsy(OR=1.07;95%CI 1.01-1.14;P=0.032),and the sensitivity analysis further supports the robustness of the results.Conclusions The current study reveals a possible causal role for serum copper in increasing the risk of generalized epilepsy,which provide guidance for identifying potential risk factors for epilepsy.
