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COPD, severe early onset

MedGen UID:
376022
Concept ID:
C1847014
Disease or Syndrome
Synonym: Pulmonary disease, chronic obstructive, severe early-onset
 
Genes (locations): HMOX1 (22q12.3); MMP1 (11q22.2)
 
Monarch Initiative: MONDO:0011751
OMIM®: 606963

Professional guidelines

PubMed

Zuo X, Guo X, Gu Y, Zheng H, Zhou Z, Wang X, Jiang S, Wang G, Xu C, Wang F
Int J Mol Sci 2022 Nov 20;23(22) doi: 10.3390/ijms232214427. PMID: 36430906Free PMC Article
Martinez-Garcia MA, Garcia-Ortega A, Oscullo G
NPJ Prim Care Respir Med 2022 Sep 8;32(1):33. doi: 10.1038/s41533-022-00297-5. PMID: 36075906Free PMC Article
Sun J, Li Y
Pediatr Res 2022 Apr;91(5):1036-1042. Epub 2021 Jun 12 doi: 10.1038/s41390-021-01613-4. PMID: 34120139Free PMC Article

Recent clinical studies

Etiology

Zhou X, Sampath V, Nadeau KC
Ann Allergy Asthma Immunol 2024 Apr;132(4):426-432. Epub 2024 Jan 20 doi: 10.1016/j.anai.2024.01.017. PMID: 38253122Free PMC Article
Verleden SE, Hendriks JMH, Snoeckx A, Mai C, Mentens Y, Callebaut W, De Belie B, Van Schil PE, Verplancke V, Janssens A, Jacob J, Pakzad A, Conlon TM, Guvenc G, Yildirim AÖ, Pauwels P, Koljenovic S, Kwakkel-Van Erp JM, Lapperre TS
Am J Respir Crit Care Med 2024 Mar 15;209(6):683-692. doi: 10.1164/rccm.202301-0132OC. PMID: 38055196
Beasley R, Hughes R, Agusti A, Calverley P, Chipps B, Del Olmo R, Papi A, Price D, Reddel H, Müllerová H, Rapsomaniki E
Am J Respir Crit Care Med 2024 Feb 15;209(4):390-401. doi: 10.1164/rccm.202308-1436OC. PMID: 38029294Free PMC Article
Nejatifar F, Foumani AA, Poor ARG, Nejad AT
Endocr Metab Immune Disord Drug Targets 2022;22(4):395-400. doi: 10.2174/1871530321666210305125059. PMID: 33676392
Brebner JA, Stockley RA
Expert Rev Respir Med 2013 Jun;7(3):213-29; quiz 230. doi: 10.1586/ers.13.20. PMID: 23734645

Diagnosis

Zhou X, Sampath V, Nadeau KC
Ann Allergy Asthma Immunol 2024 Apr;132(4):426-432. Epub 2024 Jan 20 doi: 10.1016/j.anai.2024.01.017. PMID: 38253122Free PMC Article
Guo L, Wu X, Wu X
Clin Respir J 2023 Mar;17(3):129-138. Epub 2023 Jan 29 doi: 10.1111/crj.13585. PMID: 36710403Free PMC Article
Chen XF, Deng JM
Comb Chem High Throughput Screen 2023;26(2):247-255. doi: 10.2174/1386207325666220825152237. PMID: 36028961
Brebner JA, Stockley RA
Expert Rev Respir Med 2013 Jun;7(3):213-29; quiz 230. doi: 10.1586/ers.13.20. PMID: 23734645
Dasgupta A, Nair P
Pol Arch Med Wewn 2013;123(4):183-8. Epub 2013 Mar 13 doi: 10.20452/pamw.1686. PMID: 23535848

Therapy

Zhou X, Sampath V, Nadeau KC
Ann Allergy Asthma Immunol 2024 Apr;132(4):426-432. Epub 2024 Jan 20 doi: 10.1016/j.anai.2024.01.017. PMID: 38253122Free PMC Article
Beasley R, Hughes R, Agusti A, Calverley P, Chipps B, Del Olmo R, Papi A, Price D, Reddel H, Müllerová H, Rapsomaniki E
Am J Respir Crit Care Med 2024 Feb 15;209(4):390-401. doi: 10.1164/rccm.202308-1436OC. PMID: 38029294Free PMC Article
Varricchi G, Ferri S, Pepys J, Poto R, Spadaro G, Nappi E, Paoletti G, Virchow JC, Heffler E, Canonica WG
Allergy 2022 Dec;77(12):3538-3552. Epub 2022 Aug 23 doi: 10.1111/all.15473. PMID: 35950646Free PMC Article
Foy BH, Soares M, Bordas R, Richardson M, Bell A, Singapuri A, Hargadon B, Brightling C, Burrowes K, Kay D, Owers-Bradley J, Siddiqui S
Am J Respir Crit Care Med 2019 Oct 15;200(8):982-991. doi: 10.1164/rccm.201812-2322OC. PMID: 31106566Free PMC Article
Brebner JA, Stockley RA
Expert Rev Respir Med 2013 Jun;7(3):213-29; quiz 230. doi: 10.1586/ers.13.20. PMID: 23734645

Prognosis

Beasley R, Hughes R, Agusti A, Calverley P, Chipps B, Del Olmo R, Papi A, Price D, Reddel H, Müllerová H, Rapsomaniki E
Am J Respir Crit Care Med 2024 Feb 15;209(4):390-401. doi: 10.1164/rccm.202308-1436OC. PMID: 38029294Free PMC Article
Nielsen KG, Holgersen MG, Crowley S, Marthin JK
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):20-35. Epub 2022 Mar 29 doi: 10.1002/ajmg.c.31967. PMID: 35352480Free PMC Article
Singh R, Krishnamurthy P, Deepak D, Sharma B, Prasad A
Respir Investig 2022 May;60(3):379-384. Epub 2022 Jan 3 doi: 10.1016/j.resinv.2021.12.001. PMID: 34992007
Foy BH, Soares M, Bordas R, Richardson M, Bell A, Singapuri A, Hargadon B, Brightling C, Burrowes K, Kay D, Owers-Bradley J, Siddiqui S
Am J Respir Crit Care Med 2019 Oct 15;200(8):982-991. doi: 10.1164/rccm.201812-2322OC. PMID: 31106566Free PMC Article
Dasgupta A, Nair P
Pol Arch Med Wewn 2013;123(4):183-8. Epub 2013 Mar 13 doi: 10.20452/pamw.1686. PMID: 23535848

Clinical prediction guides

Beasley R, Hughes R, Agusti A, Calverley P, Chipps B, Del Olmo R, Papi A, Price D, Reddel H, Müllerová H, Rapsomaniki E
Am J Respir Crit Care Med 2024 Feb 15;209(4):390-401. doi: 10.1164/rccm.202308-1436OC. PMID: 38029294Free PMC Article
Booth S, Hsieh A, Mostaco-Guidolin L, Koo HK, Wu K, Aminazadeh F, Yang CX, Quail D, Wei Y, Cooper JD, Paré PD, Hogg JC, Vasilescu DM, Hackett TL
Am J Respir Crit Care Med 2023 Aug 15;208(4):472-486. doi: 10.1164/rccm.202303-0534OC. PMID: 37406359
Trivedi AP, Hall C, Goss CW, Lew D, Krings JG, McGregor MC, Samant M, Sieren JP, Li H, Schechtman KB, Schirm J, McEleney S, Peterson S, Moore WC, Bleecker ER, Meyers DA, Israel E, Washko GR, Levy BD, Leader JK, Wenzel SE, Fahy JV, Schiebler ML, Fain SB, Jarjour NN, Mauger DT, Reinhardt JM, Newell JD Jr, Hoffman EA, Castro M, Sheshadri A; NHLBI Severe Asthma Research Program (SARP)
Radiology 2022 Aug;304(2):450-459. Epub 2022 Apr 26 doi: 10.1148/radiol.210363. PMID: 35471111Free PMC Article
Kraft M, Richardson M, Hallmark B, Billheimer D, Van den Berge M, Fabbri LM, Van der Molen T, Nicolini G, Papi A, Rabe KF, Singh D, Brightling C, Siddiqui S; ATLANTIS study group
Lancet Respir Med 2022 Jul;10(7):661-668. Epub 2022 Mar 2 doi: 10.1016/S2213-2600(21)00536-1. PMID: 35247313
Singh R, Krishnamurthy P, Deepak D, Sharma B, Prasad A
Respir Investig 2022 May;60(3):379-384. Epub 2022 Jan 3 doi: 10.1016/j.resinv.2021.12.001. PMID: 34992007

Recent systematic reviews

Shuai Z, Xiao Q, Ling Y, Zhang Y, Zhang Y
Complement Ther Med 2023 Aug;75:102953. Epub 2023 May 21 doi: 10.1016/j.ctim.2023.102953. PMID: 37220858
Wu Y, Huang M, Zhong J, Lu Y, Gan K, Yang R, Liu Y, Li J, Chen J
Front Immunol 2023;14:1089710. Epub 2023 Apr 11 doi: 10.3389/fimmu.2023.1089710. PMID: 37114057Free PMC Article
You Y, Ni Y, Shi G
Respiration 2022;101(10):970-980. Epub 2022 Aug 23 doi: 10.1159/000525980. PMID: 35998604
Wu XG, Shi YJ, Wang XH, Yu XW, Yang MX
Clin Respir J 2022 Apr;16(4):276-283. Epub 2022 Mar 14 doi: 10.1111/crj.13485. PMID: 35289083Free PMC Article
Osthoff AK, Taeymans J, Kool J, Marcar V, van Gestel AJ
J Cardiopulm Rehabil Prev 2013 Nov-Dec;33(6):351-9. doi: 10.1097/HCR.0000000000000022. PMID: 24142041

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