中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2012年
9期
650-653
,共4页
洪道俊%罗来敏%周美鸿%黄海华%吴向斌%万慧%徐仁伵
洪道俊%囉來敏%週美鴻%黃海華%吳嚮斌%萬慧%徐仁伵
홍도준%라래민%주미홍%황해화%오향빈%만혜%서인혁
甲状腺毒症%钾通道,内向整流%低钾性周期性麻痹%甲状腺功能亢进症
甲狀腺毒癥%鉀通道,內嚮整流%低鉀性週期性痳痺%甲狀腺功能亢進癥
갑상선독증%갑통도,내향정류%저갑성주기성마비%갑상선공능항진증
Thyrotoxicosis% Potassium channels,inwardly rectifying% Hypokalemic periodic paralysis% Hyperthyroidism
目的 分析内向校正钾通道18(KCNJ18)基因突变导致的甲状腺毒性周期性麻痹(thyrotoxic periodic paralysis,TPP)患者的临床表现和突变特点.方法 收集2002年7月至2011年10月我院TPP患者57例,其中男性55例,女性2例.运用巢式聚合酶链反应的方法,对57例患者和50名健康人进行KCNJ18基因的扩增测序.根据基因检测结果,分别回顾性总结分析KCNJ18基因突变患者和非KCNJ18基因突变患者的临床特点.结果 57例TPP患者中4例KCNJ18基因存在杂合突变,分别为p.Q126X、p.A200P、p.K360T、p.E388K.50名健康人中没有检测到这些突变.4例突变患者均为男性,发病年龄19 ～25岁,病程持续时间2～8h,均表现为重度的肌无力.4例患者在肌无力发病前均未被诊断甲状腺功能亢进.随访13 ～28个月,有3例患者再次出现临床发作,但当甲状腺功能亢进缓解后未再出现肌无力症状.结论 KCNJ18基因突变可以出现在中国TPP患者中,其临床发病年龄在20岁左右,临床病程较短而症状较重,且具有较高的复发率.
目的 分析內嚮校正鉀通道18(KCNJ18)基因突變導緻的甲狀腺毒性週期性痳痺(thyrotoxic periodic paralysis,TPP)患者的臨床錶現和突變特點.方法 收集2002年7月至2011年10月我院TPP患者57例,其中男性55例,女性2例.運用巢式聚閤酶鏈反應的方法,對57例患者和50名健康人進行KCNJ18基因的擴增測序.根據基因檢測結果,分彆迴顧性總結分析KCNJ18基因突變患者和非KCNJ18基因突變患者的臨床特點.結果 57例TPP患者中4例KCNJ18基因存在雜閤突變,分彆為p.Q126X、p.A200P、p.K360T、p.E388K.50名健康人中沒有檢測到這些突變.4例突變患者均為男性,髮病年齡19 ～25歲,病程持續時間2～8h,均錶現為重度的肌無力.4例患者在肌無力髮病前均未被診斷甲狀腺功能亢進.隨訪13 ～28箇月,有3例患者再次齣現臨床髮作,但噹甲狀腺功能亢進緩解後未再齣現肌無力癥狀.結論 KCNJ18基因突變可以齣現在中國TPP患者中,其臨床髮病年齡在20歲左右,臨床病程較短而癥狀較重,且具有較高的複髮率.
목적 분석내향교정갑통도18(KCNJ18)기인돌변도치적갑상선독성주기성마비(thyrotoxic periodic paralysis,TPP)환자적림상표현화돌변특점.방법 수집2002년7월지2011년10월아원TPP환자57례,기중남성55례,녀성2례.운용소식취합매련반응적방법,대57례환자화50명건강인진행KCNJ18기인적확증측서.근거기인검측결과,분별회고성총결분석KCNJ18기인돌변환자화비KCNJ18기인돌변환자적림상특점.결과 57례TPP환자중4례KCNJ18기인존재잡합돌변,분별위p.Q126X、p.A200P、p.K360T、p.E388K.50명건강인중몰유검측도저사돌변.4례돌변환자균위남성,발병년령19 ～25세,병정지속시간2～8h,균표현위중도적기무력.4례환자재기무력발병전균미피진단갑상선공능항진.수방13 ～28개월,유3례환자재차출현림상발작,단당갑상선공능항진완해후미재출현기무력증상.결론 KCNJ18기인돌변가이출현재중국TPP환자중,기림상발병년령재20세좌우,림상병정교단이증상교중,차구유교고적복발솔.
Objective To report the clinical features and inwardly rectifying potassium channel 18 (KCNJ18) gene mutation in a group of patients with thyrotoxic periodic paralysis (TTP).Methods Fiftyseven TTP cases (55 male and 2 female) were collected in our clinic from July 2002 to October 2011.The KCNJ18 gene was directly sequenced in 57 TTP patients and 50 health Chinese controls through the nested PCR.According to the results of gene screening,the clinical features of KCNJ18 patients and non-KCNJ18 patients were retrospectively summarized and analyzed.Results In 4 male patients with TPP,we found 3 novel heterogeneous mutations (p.Q126X,p.K360T,p.E388K) and 1 reported mutation (p.A200P) in the KCNJ18 gene.The age of onset was 19-25 years old,and the duration ranged from 2 to 8 hours.The 4 patients all presented severe muscle weakness.The attacks of muscle weakness preceded overt symptoms of hyperthyroidism in the 4 patients. Three patients showed recurrent weakness during the 13-28 months follow-up,while the episodic weakness never appeared when patients got euthyroid. Conclusions The mutations in the KCNJ18 gene are responsible for a part of Chinese patients with TPP.The patients with KCNJ18 mutations have a shorter disease course,severer manifestation,and higher prevalence of recurrence as compared with those TPP patients without KCNJ18 mutations.
