特発性肺線維症

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.

肺疾患

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]

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]

PMID:19100526

Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Am J Hum Genet 84:52-9 (2009)
DOI:10.1016/j.ajhg.2008.11.010

PMID:21613931

Lawson WE, Loyd JE, Degryse AL

Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.

Am J Med Sci 341:439-43 (2011)
DOI:10.1097/MAJ.0b013e31821a9d7a

PMID:17168848

Heinrich S, Hartl D, Griese M

Surfactant protein A--from genes to human lung diseases.

Curr Med Chem 13:3239-52 (2006)
DOI:10.2174/092986706778773112

PMID:21506748

Zhang Y, Noth I, Garcia JG, Kaminski N

A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.

N Engl J Med 364:1576-7 (2011)
DOI:10.1056/NEJMc1013504

PMID:26846335 (drug)

Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R

Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis.

Respir Res 17:14 (2016)
DOI:10.1186/s12931-016-0328-5

PMID:24032382 (marker)

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

An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.

Am J Respir Crit Care Med 188:733-48 (2013)
DOI:10.1164/rccm.201308-1483ST