KEGG   DISEASE: 低カリウム性甲状腺中毒性周期性四肢麻痺
エントリ  
H00747                                                             
名称    
低カリウム性甲状腺中毒性周期性四肢麻痺
概要    
Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often affected, but all ethnicities can present with TPP. Hypokalemia is typical during paralysis, but is not always detected; administration of potassium during the attacks should be offered cautiously, preferably orally, to prevent rebound hyperkalemia. Mutations have been identified in TPP patients in an inwardly rectifying potassium channel, , that is expressed in muscle and transcriptionally regulated by thyroid hormone. Mutations in Kir2.6, which occur in up to 33% of patients, reinforces the hypothesis of genetic heterogeneity in patients with TPP.
カテゴリ  
神経系疾患; 筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C74  周期性四肢麻痺または筋の膜興奮性疾患
     H00747  低カリウム性甲状腺中毒性周期性四肢麻痺
病因遺伝子 
KCNJ18 [HSA:100134444] [KO:K05005]
リンク   
ICD-11: 8C74.1Y
ICD-10: G72.3
OMIM: 613239
文献    
  著者
Raja Rayan DL, Hanna MG
  タイトル
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
  雑誌
Curr Opin Neurol 23:466-76 (2010)
DOI:10.1097/WCO.0b013e32833cc97e
文献    
  著者
Maciel RM, Lindsey SC, Dias da Silva MR
  タイトル
Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.
  雑誌
Nat Rev Endocrinol 7:657-67 (2011)
DOI:10.1038/nrendo.2011.58

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