Lung agenesis

Quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue that is unrelated to an underlying disorder. Commonly occurs in association with CONGENITAL DIAPHRAGMATIC HERNIA; OLIGOHYDRAMNIOS; HYDROPS FETALIS, skeletal dysplasias, and other central nervous system and neuromuscular disorders. Evidence suggests that it is a hereditary condition. OMIM: 265430

Also Known As:

Networked: 37 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pulmonary Tuberculosis
2.	Infections
3.	Congenital Heart Defects (Congenital Heart Defect)
4.	Esophageal Atresia
5.	Congenital Diaphragmatic Hernias

Experts

1.	Bellusci, Saverio: 2 articles (01/2020 - 01/2018)
2.	Chao, Cho-Ming: 2 articles (01/2020 - 01/2018)
3.	Chen, Chengshui: 2 articles (01/2020 - 01/2018)
4.	Jones, Matthew R: 2 articles (01/2020 - 01/2018)
5.	Lingampally, Arun: 2 articles (01/2020 - 01/2018)
6.	Wilhelm, Jochen: 2 articles (01/2020 - 01/2018)
7.	Boucherat, Olivier: 2 articles (01/2017 - 08/2014)
8.	Charron, Jean: 2 articles (01/2017 - 08/2014)
9.	Jeannotte, Lucie: 2 articles (01/2017 - 08/2014)
10.	Nadeau, Valérie: 2 articles (01/2017 - 08/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lung agenesis:

1.	Anti-Bacterial Agents (Antibiotics)IBA 02/01/2005 - "First case was 13-year-old girl who presented for the first time with chest infection and was found to have isolated unilateral pulmonary agenesis and responded well to antibiotics, Second case was a 10-year-old girl who had presented with total duration of illness of one year with clinical features suggestive of chronic chest infection with family history of pulmonary tuberculosis and later found to have agenesis of upper lobe of left lung in addition to having gastric aspirate positive for Mycobacterium tuberculosis. "
2.	Anesthetics (Anesthetic Agents)IBA 09/01/2011 - "Balloon dilatation of tracheal restenosis in a patient with unilateral lung agenesis - an anesthetic challenge." 04/01/2001 - "Although pulmonary agenesis has been reported in adults, there is no report of the management of a pregnant patient for cesarean section in the anesthetic literature. " 07/01/2020 - "We report the anesthetic management of a TEF repair in a 33-week-old, 1.6-kg, monochorionic diamniotic twin with right lung agenesis, intrauterine growth restriction, and cardiac dextroposition. " 10/01/2017 - "Anesthetic Care of a Child With Congenital Pulmonary Agenesis and Indwelling Intrathoracic Tissue Expander Undergoing Posterior Spinal Fusion." 07/01/2017 - "Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia."
3.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 01/01/2020 - "As inactivation of fibroblast growth factor receptor 2b (Fgfr2b) signaling during early development leads to lung agenesis, thereby preventing the analysis of this pathway at later developmental stages, we used transgenic mice to induce expression of a soluble form of Fgfr2b to inactivate Fgfr2b ligands at embryonic day (E) 14.5, corresponding to the mid-pseudoglandular stage of lung development. " 01/01/2018 - "Fibroblast growth factor (FGF) 10 signaling through FGF receptor 2b (FGFR2b) is mandatory during early lung development as the deletion of either the ligand or the receptor leads to lung agenesis. "
4.	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/01/2017 - "Epithelial inactivation of both Mek genes, encoding ERK/MAPK kinases, causes lung agenesis and death. " 08/01/2014 - "Conversely, Mek mutation in the respiratory epithelium caused lung agenesis, a phenotype resulting from the direct impact of the ERK/MAPK pathway on cell proliferation and survival. "
5.	LigandsIBA 01/01/2020 - "As inactivation of fibroblast growth factor receptor 2b (Fgfr2b) signaling during early development leads to lung agenesis, thereby preventing the analysis of this pathway at later developmental stages, we used transgenic mice to induce expression of a soluble form of Fgfr2b to inactivate Fgfr2b ligands at embryonic day (E) 14.5, corresponding to the mid-pseudoglandular stage of lung development. " 01/01/2018 - "Fibroblast growth factor (FGF) 10 signaling through FGF receptor 2b (FGFR2b) is mandatory during early lung development as the deletion of either the ligand or the receptor leads to lung agenesis. "
6.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 01/01/2018 - "Fibroblast growth factor (FGF) 10 signaling through FGF receptor 2b (FGFR2b) is mandatory during early lung development as the deletion of either the ligand or the receptor leads to lung agenesis. "
7.	Transforming Growth Factor beta (TGF-beta)IBA 08/01/2007 - "Increased Smad2 phosphorylation further suggested that Tgfbeta signaling was hyperactive in these foreguts when lung agenesis was observed. "
8.	Valproic Acid (Depakote)FDA LinkGeneric 10/01/2009 - "Unilateral lung agenesis: coincidence or association with maternal valproate therapy?"
9.	Tretinoin (Retinoic Acid)FDA LinkGeneric 08/01/2007 - "Disruption of retinoic acid (RA) signaling during early development results in severe respiratory tract abnormalities, including lung agenesis. "
10.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 01/01/2018 - "Fibroblast growth factor (FGF) 10 signaling through FGF receptor 2b (FGFR2b) is mandatory during early lung development as the deletion of either the ligand or the receptor leads to lung agenesis. "

Therapies and Procedures

1.	Sternotomy 01/01/2019 - "Aortopexy and thymectomy through lower partial sternotomy for the treatment of airway compression in a patient with right lung agenesis." 11/21/2021 - "A median sternotomy is a safe and effective approach for surgical repair of congenital heart disease with unilateral lung agenesis. "
2.	Tissue Expansion Devices (Tissue Expander) 06/01/2015 - "We describe a full-term infant born with right-sided pulmonary agenesis who underwent thoracoscopic placement of a tissue expander. " 10/01/1995 - "We report the implantation of a tissue-expander in a three-months-old infant suffering from a right-sided lung agenesis associated with sinus-venosus defect. " 10/01/1995 - "Pulmonary agenesis in a newborn: implantation of tissue expander to prevent a mediastinal shift." 01/01/2016 - "Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement." 10/01/2017 - "Anesthetic Care of a Child With Congenital Pulmonary Agenesis and Indwelling Intrathoracic Tissue Expander Undergoing Posterior Spinal Fusion."
3.	Extracorporeal Membrane Oxygenation 05/15/2023 - "Neonatal peri-procedural extracorporeal membrane oxygenation in the management of tracheo-esophageal fistula/esophageal atresia and left pulmonary agenesis." 10/01/2018 - "We describe a case of a 6-month-old girl with right lung agenesis who required venovenous extracorporeal membrane oxygenation (VV-ECMO) due to pneumonia complicated by exacerbated previously diagnosed left main bronchus stenosis. " 03/01/2002 - "Singular indications included an EXIT-to-ECMO (extracorporeal membrane oxygenation) procedure for a fetus with CDH and a cardiac defect (n = 1), congenital high airway obstruction syndrome (CHAOS, n = 1), resection of a very large congenital cystic adenomatoid malformation of the lung (CCAM) on uteroplacental bypass (n = 1), unilateral pulmonary agenesis (n = 1), and thoracoomphalopagus conjoined twins. " 08/01/2003 - "Indications included airway obstruction from fetal neck masses (n = 19), reversal of tracheal occlusion for congenital diaphragmatic hernia (CDH; n = 13), resection of massive congenital cystic adenomatoid malformation of the lung (n = 5), congenital high airway obstruction syndrome (n = 3), EXIT-to-extracorporeal membrane oxygenation for a fetus with CDH and a cardiac defect (n = 1), unilateral pulmonary agenesis (n = 1), and thoracoomphalopagus conjoined twins (n = 1). "
4.	Thoracotomy 05/15/2023 - "In the case of left-sided pulmonary agenesis, the patient had incomplete agenesis and underwent repair through a left thoracotomy. " 08/01/2019 - "Aortic valve replacement and tricuspid valve annuloplasty via a left thoracotomy in an adult with left pulmonary agenesis."
5.	Therapeutics 06/01/2015 - "Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome." 10/01/2009 - "Unilateral lung agenesis: coincidence or association with maternal valproate therapy?"