解剖与临床
解剖與臨床
해부여림상
JOURNAL OF ANATOMY AND CLINICS
2013年
5期
423-425,426
,共4页
正常血钾型%周期性麻痹%遗传%染色体%基因突变
正常血鉀型%週期性痳痺%遺傳%染色體%基因突變
정상혈갑형%주기성마비%유전%염색체%기인돌변
Normokalemia%Periodic paralysis%Inheritance%Chromosome%Gene mutation
目的：报道一正常血钾型周期性麻痹（normoKPP）家系，以提高对该病的认识。方法：调查一normoKPP家系，分析其家系中28例normo KPP患者的临床表现、辅助检查以及治疗结果，并复习相关文献。结果：患者均于儿童期起病，周期性发作四肢迟缓性瘫痪，发作期血钾正常，葡萄糖酸钙治疗有效。结论：normoKPP 是少见的常染色体显性遗传的骨骼肌病，依据其家族史、临床表现及相关辅助检查可诊断，基因分析可确诊。
目的：報道一正常血鉀型週期性痳痺（normoKPP）傢繫，以提高對該病的認識。方法：調查一normoKPP傢繫，分析其傢繫中28例normo KPP患者的臨床錶現、輔助檢查以及治療結果，併複習相關文獻。結果：患者均于兒童期起病，週期性髮作四肢遲緩性癱瘓，髮作期血鉀正常，葡萄糖痠鈣治療有效。結論：normoKPP 是少見的常染色體顯性遺傳的骨骼肌病，依據其傢族史、臨床錶現及相關輔助檢查可診斷，基因分析可確診。
목적：보도일정상혈갑형주기성마비（normoKPP）가계，이제고대해병적인식。방법：조사일normoKPP가계，분석기가계중28례normo KPP환자적림상표현、보조검사이급치료결과，병복습상관문헌。결과：환자균우인동기기병，주기성발작사지지완성탄탄，발작기혈갑정상，포도당산개치료유효。결론：normoKPP 시소견적상염색체현성유전적골격기병，의거기가족사、림상표현급상관보조검사가진단，기인분석가학진。
Objective:To understand this disease better , a familial normokalemic periodic paralysis (normoKPP) was reported.Methods:A family normoKPP was investigated, the hereditary characters, clinical manifestations , auxiliary examination and managements of the 28 cases with normoKPP were summarized and the related literatures were reviewed .Results:Symptoms usually appear during the first decade of life , patiens show flaccid paralysis on four limbs and normokalemia during an attack , management with calcium gluconate is effective.Conclusions:NormoKPP is rare and dominantly inherited disorders characterized by muscular symp-toms, the typical history and transient course of the attacks often suggest the diagnosis , which can be confirmed by mutation analysis .
