Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
نویسندگان
چکیده
منابع مشابه
A case of hyperkalemic periodic paralysis.
た.し か し発熱,筋 ・関節痛はな く,知 覚異常も 自覚 しなかつた.筋 脱力は四肢に限局し,頭 頚部 およ び躯幹の異常はなかつた.発 病後約1週 間徐 徐に増悪 したのち快方に向い,約1ヵ 月間の通院 治療で全治した.そ の後は特別の症状なく普通に 生活 していたがが,昭 和43年(15才 時)8月 初旬, 野球大会に投手 として出場のための練習で過労がが 続いたのち,同 月12日,最 終試合を 終えて 帰宅 後,夕 食前,午 後6時 頃から両手の脱力を覚え, 翌13日 朝は両下肢 の脱力が加わ り,さ らに夕刻に は軽度の嚥下障害も認められ,14日 には腰腹筋脱 力,15日 には起坐 ・歩行全 く不能 とな り,8月17 日当科に入院 した. 入院時現症:意 識清明.起 坐 ・歩行全 く不能 で受動的背臥位であるが,心 ・肺お よび腹部内臓 には異常なく,軽 度の嚥下障害を...
متن کاملThyrotoxic periodic paralysis: a case report and literature review.
We describe a 37-year-old man with a 4-month history of episodic muscular weakness, involving mainly lower-limbs. Hypokalemia was documented in one episode and managed with intravenous potassium chloride. Hyperthyroidism was diagnosed 4 months after onset of attacks because of mild symptoms. The patient was subsequently diagnosed as having thyrotoxic periodic paralysis associated with Graves' d...
متن کامل[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].
INTRODUCTION Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS The five patients were subje...
متن کاملHyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-o...
متن کاملHyperkalemic Periodic Paralysis Synonym: HyperPP
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, ...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2020
ISSN: 2090-6552,2090-6544
DOI: 10.1155/2020/8843410