KEGG   DISEASE: レッグ・カルベ・ペルテス病
エントリ  
H01526                                                             
名称    
レッグ・カルベ・ペルテス病
  上位グループ
II 型コラーゲン異常症 [DS:H00520]
大腿骨頭壊死症 [DS:H01529]
概要    
Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB82  軟骨変性症
    H01526  レッグ・カルベ・ペルテス病
パスウェイ 
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway
病因遺伝子 
COL2A1 [HSA:1280] [KO:K19719]
リンク   
ICD-11: FB82.1
MeSH: D007873
OMIM: 150600
文献    
  著者
Bansal T, Jaiswal R
  タイトル
Legg-Calve-Perthes disease: A must know entity for anaesthesiologists.
  雑誌
Indian J Anaesth 60:68-9 (2016)
DOI:10.4103/0019-5049.174807
文献    
  著者
Young ML, Little DG, Kim HK
  タイトル
Evidence for using bisphosphonate to treat Legg-Calve-Perthes disease.
  雑誌
Clin Orthop Relat Res 470:2462-75 (2012)
DOI:10.1007/s11999-011-2240-0
文献    
  著者
Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S
  タイトル
A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
  雑誌
Hum Genet 121:625-9 (2007)
DOI:10.1007/s00439-007-0354-y
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