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Pulmonary agenesis

MedGen UID:
82722
Concept ID:
C0265780
Congenital Abnormality
Synonym: Congenital absence of lung
SNOMED CT: Congenital absence of lung (66489009); Apulmonism (66489009); Agenesis of lung (156936000); Aplasia of lung (702612001); Congenital aplasia of lung (702612001); Pulmonary agenesis (156936000)
 
Monarch Initiative: MONDO:0020110
Orphanet: ORPHA984

Definition

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary agenesis
Follow this link to review classifications for Pulmonary agenesis in Orphanet.

Professional guidelines

PubMed

Haddon MJ, Bowen A
Radiol Clin North Am 1991 Mar;29(2):241-54. PMID: 1998049

Recent clinical studies

Etiology

Cherian SV, Kumar A, Ocazionez D, Estrada-Y-Martin RM, Restrepo CS
Respir Med 2019 Aug;155:86-96. Epub 2019 Jul 11 doi: 10.1016/j.rmed.2019.07.011. PMID: 31326738
DeMarcantonio MA, Hart CK, Yang CJ, Tabangin M, Rutter MJ, Bryant R, Manning PB, de Alarcón A
Laryngoscope 2017 Jun;127(6):1283-1287. Epub 2016 Nov 15 doi: 10.1002/lary.26404. PMID: 27859296
Hasegawa T, Oshima Y, Maruo A, Matsuhisa H, Yokoi A, Okata Y, Nishijima E, Yamaguchi M
Ann Thorac Surg 2014 May;97(5):1652-8. Epub 2014 Feb 6 doi: 10.1016/j.athoracsur.2013.11.022. PMID: 24507772
Hazekamp MG, Koolbergen DR, Kersten J, Peper J, de Mol B, König-Jung A
Eur J Cardiothorac Surg 2009 Aug;36(2):344-51; discussion 351. Epub 2009 Apr 25 doi: 10.1016/j.ejcts.2009.02.057. PMID: 19394852
Greenough A, Ahmed T, Broughton S
J Perinat Med 2006;34(1):80-1. doi: 10.1515/JPM.2006.011. PMID: 16502557

Diagnosis

Pimenta DA, Aguiar FL, Fernandes BC, Rolo R
BMJ Case Rep 2021 Oct 27;14(10) doi: 10.1136/bcr-2021-245233. PMID: 34706915Free PMC Article
Cherian SV, Kumar A, Ocazionez D, Estrada-Y-Martin RM, Restrepo CS
Respir Med 2019 Aug;155:86-96. Epub 2019 Jul 11 doi: 10.1016/j.rmed.2019.07.011. PMID: 31326738
Bannister M
Int J Pediatr Otorhinolaryngol 2017 Jan;92:99-102. Epub 2016 Oct 24 doi: 10.1016/j.ijporl.2016.10.021. PMID: 28012543
Chawla RK, Madan A, Chawla A, Arora HN, Chawla K
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):251-3. PMID: 27164736
Russell BC, Whitecar P, Nitsche JF
Obstet Gynecol Surv 2014 Jun;69(6):335-45. doi: 10.1097/OGX.0000000000000070. PMID: 25101843

Therapy

Tanrivermis Sayit A, Elmali M
Surg Radiol Anat 2020 Nov;42(11):1299-1301. Epub 2020 Apr 7 doi: 10.1007/s00276-020-02467-x. PMID: 32266442
Rentea RM, Oyetunji TA, Erkmann J, Knowlton JQ, Hendrickson RJ
Pediatr Surg Int 2017 Jul;33(7):817-821. Epub 2017 Apr 17 doi: 10.1007/s00383-017-4090-7. PMID: 28417152
DeMarcantonio MA, Hart CK, Yang CJ, Tabangin M, Rutter MJ, Bryant R, Manning PB, de Alarcón A
Laryngoscope 2017 Jun;127(6):1283-1287. Epub 2016 Nov 15 doi: 10.1002/lary.26404. PMID: 27859296
Naito Y, Kimura T, Aramaki M, Izumi K, Okada Y, Suzuki H, Takahashi T, Kosaki K
Pediatr Res 2009 Jun;65(6):607-12. doi: 10.1203/PDR.0b013e31819e7317. PMID: 19218883
Rubin SZ, Trevenen CL, Mitchell I
J Pediatr Surg 1988 May;23(5):476-7. doi: 10.1016/s0022-3468(88)80452-4. PMID: 3379555

Prognosis

Fukuoka S, Yamamura K, Nagata H, Toyomura D, Nagatomo Y, Eguchi Y, Uike K, Hirata Y, Inoue H, Ochiai M, Ohga S
Pediatr Pulmonol 2022 Dec;57(12):3060-3068. Epub 2022 Sep 16 doi: 10.1002/ppul.26135. PMID: 36069476
Pimenta DA, Aguiar FL, Fernandes BC, Rolo R
BMJ Case Rep 2021 Oct 27;14(10) doi: 10.1136/bcr-2021-245233. PMID: 34706915Free PMC Article
Chawla RK, Madan A, Chawla A, Arora HN, Chawla K
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):251-3. PMID: 27164736
Russell BC, Whitecar P, Nitsche JF
Obstet Gynecol Surv 2014 Jun;69(6):335-45. doi: 10.1097/OGX.0000000000000070. PMID: 25101843
Kayemba-Kay's S, Couvrat-Carcauzon V, Goua V, Podevin G, Marteau M, Sapin E, Levard G
Pediatr Pulmonol 2014 Mar;49(3):E96-102. Epub 2013 Oct 31 doi: 10.1002/ppul.22920. PMID: 24178867

Clinical prediction guides

Kim JY, Kim WS, Lee KS, Je BK, Park JE, Ryu YJ, Choi YH, Cheon JE
Korean J Radiol 2021 Oct;22(10):1690-1696. Epub 2021 Jul 1 doi: 10.3348/kjr.2021.0155. PMID: 34269531Free PMC Article
Zhang L, Ai T, Wang L, Zhang L, Zhang Y
Medicine (Baltimore) 2019 Jan;98(4):e14077. doi: 10.1097/MD.0000000000014077. PMID: 30681564Free PMC Article
Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium
Am J Med Genet A 2016 Jan;170A(1):11-8. Epub 2015 Sep 16 doi: 10.1002/ajmg.a.37389. PMID: 26373900
Hazekamp MG, Koolbergen DR, Kersten J, Peper J, de Mol B, König-Jung A
Eur J Cardiothorac Surg 2009 Aug;36(2):344-51; discussion 351. Epub 2009 Apr 25 doi: 10.1016/j.ejcts.2009.02.057. PMID: 19394852
Cunningham ML, Mann N
Am J Med Genet 1997 Jun 27;70(4):391-8. doi: 10.1002/(sici)1096-8628(19970627)70:4<391::aid-ajmg11>3.0.co;2-c. PMID: 9182780

Recent systematic reviews

Fukuoka S, Yamamura K, Nagata H, Toyomura D, Nagatomo Y, Eguchi Y, Uike K, Hirata Y, Inoue H, Ochiai M, Ohga S
Pediatr Pulmonol 2022 Dec;57(12):3060-3068. Epub 2022 Sep 16 doi: 10.1002/ppul.26135. PMID: 36069476
Bannister M
Int J Pediatr Otorhinolaryngol 2017 Jan;92:99-102. Epub 2016 Oct 24 doi: 10.1016/j.ijporl.2016.10.021. PMID: 28012543
Meller CH, Morris RK, Desai T, Kilby MD
J Ultrasound Med 2012 Dec;31(12):2017-23. doi: 10.7863/jum.2012.31.12.2017. PMID: 23197556

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