KEGG   DISEASE: 特発性肺線維症
エントリ  
H01299                                                             

名称    
特発性肺線維症
概要    
Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant.
カテゴリ  
肺疾患
階層分類  
ヒト疾患 [BR:jp08402]
 呼吸器系疾患
  肺疾患
   H01299  特発性肺線維症
ICD-11 による疾患分類 [BR:jp08403]
 12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB03  Idiopathic interstitial pneumonitis
    H01299  特発性肺線維症
病因遺伝子 
TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
SFTPA1 [HSA:653509] [KO:K10067]
SFTPA2 [HSA:729238] [KO:K10067]
SFTPC [HSA:6440]
MUC5B [HSA:727897] [KO:K13908]
治療薬   
ニンテダニブエタンスルホン酸塩 [DR:D10396]
ピルフェニドン [DR:D01583]
リンク   
ICD-11: CB03.4
ICD-10: J84.1
OMIM: 178500
文献    
  著者
Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK
  タイトル
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
  雑誌
Am J Hum Genet 84:52-9 (2009)
DOI:10.1016/j.ajhg.2008.11.010
文献    
  著者
Lawson WE, Loyd JE, Degryse AL
  タイトル
Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.
  雑誌
Am J Med Sci 341:439-43 (2011)
DOI:10.1097/MAJ.0b013e31821a9d7a
文献    
  著者
Heinrich S, Hartl D, Griese M
  タイトル
Surfactant protein A--from genes to human lung diseases.
  雑誌
Curr Med Chem 13:3239-52 (2006)
DOI:10.2174/092986706778773112
文献    
  著者
Zhang Y, Noth I, Garcia JG, Kaminski N
  タイトル
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.
  雑誌
N Engl J Med 364:1576-7 (2011)
DOI:10.1056/NEJMc1013504
文献    
PMID:26846335 (drug)
  著者
Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R
  タイトル
Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis.
  雑誌
Respir Res 17:14 (2016)
DOI:10.1186/s12931-016-0328-5
文献    
PMID:24032382 (marker)
  著者
Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D
  タイトル
An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.
  雑誌
Am J Respir Crit Care Med 188:733-48 (2013)
DOI:10.1164/rccm.201308-1483ST
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