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

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 .