Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPulmonary agenesis

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital malformation of the respiratory system
        Pulmonary agenesis

Follow this link to review classifications for Pulmonary agenesis in Orphanet.

Professional guidelines

PubMed

Bronchopulmonary and neurenteric forms of foregut anomalies. Imaging for diagnosis and management.

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

See all (1)

Recent clinical studies

Etiology

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.

Hong SY, Kim SJ, Park MH, Lee KA
Medicina (Kaunas) 2023 Jul 28;59(8) doi: 10.3390/medicina59081387. PMID: 37629676 Free PMC Article

Developmental lung anomalies in adults: A pictorial review.

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

The EXIT procedure: experience and outcome in 31 cases.

Bouchard S, Johnson MP, Flake AW, Howell LJ, Myers LB, Adzick NS, Crombleholme TM
J Pediatr Surg 2002 Mar;37(3):418-26. doi: 10.1053/jpsu.2002.30839. PMID: 11877660

Perioperative extracorporeal membrane oxygenation for tracheal reconstruction in congenital tracheal stenosis.

Angel C, Murillo C, Zwischenberger J, Swischuk L, Graves D, Chernin J
Pediatr Surg Int 2000;16(1-2):98-101. doi: 10.1007/s003830050028. PMID: 10663850

Right-sided pulmonary aplasia: longitudinal lung function studies in two cases and comparison to results from term healthy neonates.

Nowotny T, Ahrens BC, Bittigau K, Buttenberg S, Hammer H, Kalache KD, Kursawe R, Maurer T, Schneider M, Wauer RR
Pediatr Pulmonol 1998 Aug;26(2):138-44. doi: 10.1002/(sici)1099-0496(199808)26:2<138::aid-ppul12>3.0.co;2-2. PMID: 9727767

See all (23)

Diagnosis

Late diagnosis of pulmonary agenesis.

Pimenta DA, Aguiar FL, Fernandes BC, Rolo R
BMJ Case Rep 2021 Oct 27;14(10) doi: 10.1136/bcr-2021-245233. PMID: 34706915 Free PMC Article

Developmental lung anomalies in adults: A pictorial review.

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

Paediatric haemoptysis and the otorhinolaryngologist: Systematic review.

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

Pulmonary Agenesis.

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

Pulmonary arterial hypertension associated with tetralogy of Fallot.

Yasuhara J, Yamagishi H
Int Heart J 2015;56 Suppl:S17-21. doi: 10.1536/ihj.14-351. PMID: 25787793

See all (80)

Therapy

An adult patient presenting with right unilateral pulmonary agenesis: a case report and literature review.

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

Slide tracheoplasty outcomes in children with congenital pulmonary malformations.

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

Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association.

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

Right-sided pulmonary aplasia: longitudinal lung function studies in two cases and comparison to results from term healthy neonates.

Diffuse necrotizing tracheobronchitis: an acute and chronic disease.

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

See all (11)

Prognosis

Clinical outcomes of pulmonary agenesis: A systematic review of the literature.

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

Late diagnosis of pulmonary agenesis.

Pimenta DA, Aguiar FL, Fernandes BC, Rolo R
BMJ Case Rep 2021 Oct 27;14(10) doi: 10.1136/bcr-2021-245233. PMID: 34706915 Free PMC Article

Pulmonary Agenesis.

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

Congenital malformation of the lung.

Cay A, Sarihan H
J Cardiovasc Surg (Torino) 2000 Jun;41(3):507-10. PMID: 10952352

Perioperative extracorporeal membrane oxygenation for tracheal reconstruction in congenital tracheal stenosis.

Angel C, Murillo C, Zwischenberger J, Swischuk L, Graves D, Chernin J
Pediatr Surg Int 2000;16(1-2):98-101. doi: 10.1007/s003830050028. PMID: 10663850

See all (45)

Clinical prediction guides

Posterior Lung Herniation in Pulmonary Agenesis and Aplasia: Chest Radiograph and Cross-Sectional Imaging Correlation.

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: 34269531 Free PMC Article

Hypoplasia of the left lung presenting as hemoptysis: A case report.

Zhang L, Ai T, Wang L, Zhang L, Zhang Y
Medicine (Baltimore) 2019 Jan;98(4):e14077. doi: 10.1097/MD.0000000000014077. PMID: 30681564 Free PMC Article

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Sadowski S, Chassaing N, Gaj Z, Czichos E, Wilczynski J, Nowakowska D
Birth Defects Res 2017 Mar 1;109(4):251-253. doi: 10.1002/bdra.23465. PMID: 28398665

Pediatric tracheal reconstruction with pericardial patch and strips of autologous cartilage.

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

Pulmonary agenesis: a predictor of ipsilateral malformations.

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

See all (14)