正常血钾型周期性麻痹一家系28例分析  

A Familial Normokalemic Periodic Paralysis （normoKPP）：Report of 28 Cases

作　　者：桑道乾[1] 

机构地区：[1]蚌埠医学院第一附属医院神经内科,安徽蚌埠,233004

出　　处：《解剖与临床》2013年第5期423-426,共4页Anatomy and Clinics

摘　　要：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。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 .

关 键 词：正常血钾型 周期性麻痹 遗传 染色体 基因突变 

分 类 号：R746.3[医药卫生—神经病学与精神病学]