KEGG   DISEASE: 特発性高 CK 血症
エントリ  
H02181                                                             
名称    
特発性高 CK 血症;
突発性高クレアチンキナーゼ血症
概要    
Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H02181  特発性高 CK 血症
パスウェイ 
hsa04144  Endocytosis
hsa04510  Focal adhesion
病因遺伝子 
CAV3 [HSA:859] [KO:K12959]
リンク   
ICD-11: 5C53.4
OMIM: 123320
文献    
PMID:5422556
  著者
Emery AE, Spikesman A
  タイトル
Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.
  雑誌
J Neurol Sci 10:523-33 (1970)
DOI:10.1016/0022-510X(70)90185-1
文献    
  著者
Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC
  タイトル
CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
  雑誌
Muscle Nerve 34:656-8 (2006)
DOI:10.1002/mus.20593
文献    
  著者
Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A
  タイトル
Familial idiopathic hyper-CK-emia: an underrecognized condition.
  雑誌
Muscle Nerve 33:760-5 (2006)
DOI:10.1002/mus.20525
文献    
  著者
Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C
  タイトル
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
  雑誌
Neurology 54:1373-6 (2000)
DOI:10.1212/WNL.54.6.1373
LinkDB    

» English version

DBGET integrated database retrieval system