Lung Agenesis Research Articles

Tailored Management of Airway Abnormalities in Children with Congenital Single Functional Lung

ObjectivesPediatric patients born with single functional lung can be associated with symptomatic airway abnormalities. Management of such patients is not only technically demanding but is also ethically challenging. This study reports our experience of managing symptomatic airway abnormalities in pediatric patients with congenital single functional lung. MethodsObservational retrospective cohort study performed at a tertiary children’s hospital from January 2001 to September 2017. All children (0 to 18 years old) with congenital single functional lung (agenesis and hypoplasia) presenting with symptomatic airway abnormalities (long segment congenital tracheal stenosis and tracheomalacia) and requiring surgical interventions were included in the study. Children with single functional lung secondary to non-congenital causes were excluded. ResultsA total of 16 patients with single functional lung (agenesis=8 and hypoplasia=8) and airway abnormalities (long segment congenital tracheal stenosis=12 and tracheomalacia =4) were eligible for the study. Lung abnormalities were common on the right side (n = 10, 62.5%). Associated abnormalities (cardiac and non-cardiac) were seen in 11 patients (68.8%). Surgical interventions for airway abnormalities, alone or in combination, included slide tracheoplasty (n=12), aortopexy with or without pericardiopexy (n=7), excision of rudimentary lung (n=4) and placement of intrathoracic tissue expanders to reposition the mediastinum (n=3). Nine patients (56.3%) underwent a one-stage repair while staged repairs (airway and cardiac) were performed in 7 (43.7%). Fourteen patients (87.5%) survived to hospital discharge. Of the survivors, 9 (64.2%) had stable airways not requiring respiratory support at home. ConclusionManagement of pediatric patients with airway abnormalities in the setting of congenital single functional lung is feasible with acceptable surgical outcomes. This is facilitated by staged repairs and repositioning of mediastinum before a definitive airway repair in patients with significant comorbidities. Treatment should not be deferred to these patients if there are no obvious contraindications. Type of StudyRetrospective Case Control Study Level of EvidenceLevel III.

CT features of lung agenesis \u2013 a case series (6 cases)

Back groundLung agenesis is a rare congenital anomaly. The main etiology of the disease is unknown whereas genetic, iatrogenic and viral factors as well as vitamin A deficiency during early pregnancy may result in developmental failure of primitive lung bud causing unilateral pulmonary agenesis. Affected patients usually present with variable respiratory symptoms and recurrent chest infection at any age. Plain film demonstrates opaque unilateral lung while chest CT scan can definitely diagnosis the disease. The anomaly has three types. Type I is pulmonary agenesis, type II is called pulmonary aplasia and type III is pulmonary hypoplasia.Cases’ presentationSix patients with main complaint of dyspnea underwent contrast enhanced chest CT in radiology department of French Medical Institute for Mothers and children, Kabul and were diagnosed lung agenesis.Three patients were categorized as type II pulmonary agenesis (aplasia). Two patients, three months old boy and a seven year- old girl demonstrated right lung aplasia. Another patient boy of eighteen years old presented with left lung aplasia.Two boys of four and seven months of age were classified as type I pulmonary agenesis (agenesis).A boy of one year old was diagnosed pulmonary agenesis type III, right lung hypoplasia.ConclusionSix patients were diagnosed with pulmonary agenesis by Chest CT scan. The clinicians should consider possibility of congenital pulmonary agenesis in dyspneic patients with opaque unilateral hemithorax in plain film.

RIGHT UNILATERAL PULMONARY APLASIA

SESSION TITLE: Lung Pathology 2 SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/09/2018 01:15 PM - 02:15 PM INTRODUCTION: Pulmonary agenesis is an extremely rare congenital abnormality. There is incomplete development of lung due to embryological defects. This condition is diagnosed in neonates presenting with respiratory distress. CASE PRESENTATION: A 24 year old male, asymptomatic, consulted for pre-employment clearance. Mother had episode of vaginal bleeding on 5th month of gestation but patient was carried to full term with uneventful birth history. Patient was noted frail growing up, with recurrent pulmonary infection. There was noted shallowness of right nasolabial fold, unequal shoulder height. Right hypothenar was atrophied. Trachea was shifted to the right. There was lag on right chest wall and absence of breath sounds on right lung. Chest xray showed full opacification of the right hemithorax with tracheal deviation to the right. Chest CT scan showed absence of right lung and supplying vasculature. Mediastinum was noted occupying the right hemithorax. Diagnosis was right pulmonary aplasia. DISCUSSION: Pulmonary agenesis encompasses undeveloped pulmonary parenchyma, pulmonary vasculatures, and airways. There is failure of development of the primitive lung bud. Arrest in the development of respiratory system from the foregut corresponds to these embrogenic malformations. Respiratory anlage may develop unilaterally leading to lung agenesis. Unilateral aplasia and hypoplasia are better viable with life. Functionally, unilateral agenesis and aplasia are similar. Sole functional lung is larger than normal to compensate and this enlargement is true hypertrophy and not emphysema.Primary causes include deficiency in TTF-1, HNF310, and EGFR. Secondary causes include small fetal thoracic volume, prolonged oligohydramnios, and congenital heart diseases. A third diagnosed during adulthood are asymptomatic. Recurrent childhood respiratory infections are common symptoms leading to identification. Diagnosis is suspected in patients examined with tracheal deviation, in the presence of a clinically symmetric chest and massive atelectasis in chest xray. Chest CT scan has emerged as diagnostic modality of choice in diagnosis. There is no treatment needed for asymptomatic cases. Treatment is necessary in the presence of respiratory tract infections. Prognosis of pulmonary aplasia depends on severity of co-existing congenital malformations and involvement of normal lung in infection and large vessels kink due to mediastinal displacement. Normal life span is expected for those surpassing first five years without major infection.There is higher mortality with right lung agenesis than left due to greater compression of tracheobronchial tree by shifting of midthoracic structures into the right chest. CONCLUSIONS: Pulmonary aplasia is a rare congenital abnormality characterized by absence of lung parenchyma and supporting vasculature. Patients with no other concomitant congenital anomaly survive well into adulthood. Reference #1: Mardini M K, Nyhan W L. Agenesis of lung: Report of 4 patients with unusual anomalies. Chest 1983; 87:522-7. Reference #2: Conway K, Gibson RL, Perkins J, Cunningham ML. Pulmonary agenesis: Expansion of the VCFS phenotype. Am J Med Genet. 2002:11389–92. Reference #3: Richard S. Synopsis of Diseases of the Chest. 2nd ed. Phildelphia: W. B. Saunders Company; 1994. Pulmonary Abnormalities of Developmental Origin; p. 25686. DISCLOSURES: No relevant relationships by Portia Maria Tanyag, source=Web Response

Agenesis of Right Lung: A Rare Congenital Disorder

Pulmonary agenesis is a rare congenital anomaly in which there is absence of pulmonary parenchyma as well as its bold vessels. It is an unusual cause of respiratory distress in newborn. Unilateral agenesis of lung is often associated with other congenital anomalies. The condition may lead to diagnostic difficulties. Right pulmonary agenesis has poor prognosis. Here we present a case of female child of one year with a history of recurrent chest infection, fever and respiratory distress and on investigations was diagnosed with right pulmonary agenesis.

Complex surgical treatment of congenital tracheal stenosis with associated unilateral lung agenesis

Abstract Background The combination of congenital tracheal stenosis (CTS) and unilateral pulmonary agenesis is rare and fatal. Especially, right lung agenesis is associated with dextrocardia and often causes tracheal alignment disorder. The mortality is estimated with 12.5–65%. Slide Tracheoplasty (ST) has been improved the prognosis, however, the postoperative course of CTS with single lung remains unclear. Here, we describe the postoperative challenging situation with bronchial intervention and other devices. Case presentation A 9-month-old girl with CTS, right lung agenesis, dextrocardia, and bilateral superior vena cava underwent ST anterior to the aortic arch. On postoperative day 50, tracheostomy was performed for long-term airway pressure support. Six months after the ST, she showed severe bronchomalacia at the bifurcation of the lobar bronchi, which was sandwiched between the descending aorta and left pulmonary artery. Direct bronchopexy and mobilization of left pulmonary artery resolved the severe bronchomalacia. Additionally, the kinked trachea caused a tracheal ulcer and frequent accidental decannulations. The ulcer was made above the aortic arch by contact with the tracheal cannula. The customized Montgomery T-tube solved both problems and enabled the stable management for airway. Her condition eventually improved, and she was discharged home after 14 months of hospitalization. Conclusion This case presented a very rare and critical condition. This is the first report to address the severe condition after ST anterior to the aortic arch. Surgical interventions or other devices for treatment are thought to be modified according to each condition.

Pulmonary agenesis: update and implications for nursing

Congenital malformations of the lungs are rare and vary widely in their clinical presentation and severity, the etiology is unknown in 50% of the cases and its prevalence is 0.5-1.0 for every 10,000 live births, including bilateral forms And unilateral. Clinical malformations are highly variable and can be diagnosed in early childhood due to severe cardiopulmonary dysfunctions. Congenital malformations represent about 11.2% of infant deaths in Brazil, being the major cause of mortality in this category. Understanding diagnosis is a process permeated by concerns. For this reason, important research is done in the area in order to broaden the knowledge about the conduct of health professionals, in relation to the patient with congenital malformation and among them the lung agenesis must be specific and of quality. Thus, nurses play a fundamental role in establishing the quality of care provided with the aim of improving the clinical picture and minimizing the risk of complications to the patient.

Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England.

In the article listed above, there was an error in the order of authors. The correct order should be: Nic Robertson, Nicola Miller, Judith Rankin, Michael McKean, Malcom Brodlie, Matthew Thomas

Congenital agenesis of the lung: A case report and literature review

Developmental malformations of the lung are common but complete agenesis of the lung is quite rare and usually the patients presented are in early childhood; though according to literature, a few cases have come to light even in the adult age group. A 10-month-old male child presented with a sudden onset of respiratory distress with opacity of the right hemithorax on X-ray, raising suspicion of foreign body bronchus. Subsequent CT scans and bronchoscopy revealed agenesis of the right lung. Patient was managed conservatively and his parents were counseled about the anomaly. The child is doing well and is in a regular follow-up with us. Agenesis of the lung should be suspected in children with recurrent respiratory distress with opacity of the hemithorax on X-ray and herniation of the opposite lung across the mediastinum.

Right Lung Agenesis with Dextrocardia: A Case Mismanaged as Pneumonia

Right Lung Agenesis with Dextrocardia: A Case Mismanaged as Pneumonia

Unilateral Pulmonary Agenesis – As a cause of respiratory distress in newborn

Pulmonary agenesis is a rare developmental defect which occurs as a result of failure of development of primitive lung bud. The onset & mode of presentation is highly variable ranging from asymptomatic cases to cases diagnosed in adulthood due to recurrent respiratory tract infections. Around 50% of cases are associated with other congenital anomalies.Isolated U/L pulmonary agenesis, if not associated with other congenital abnormalities may have fewer symptoms & long survival. Hereby we report a case of 2 days old female baby with right lung agenesis who presented with respiratory distress in neonatal period.

Congenital Lung Agenesis: Incidence and Outcome in the North of England.

Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. Birth Defects Research 109:857-859, 2017. © 2017 Wiley Periodicals, Inc.

Late diagnosed congenital agenesis of the left lung in 15-year-old boy

Late diagnosed congenital agenesis of the left lung in 15-year-old boy

Right lung agenesis with left pulmonary artery sling: Computed tomography imaging

We report a case of an infant with respiratory distress and difficult intubation, who on multidetector computed tomography (MDCT) imaging was found to have an extremely rare combination of left pulmonary artery (LPA) sling and right lung agenesis (RLA). The complete right-sided mediastinal shift resulted in dextroposed, coronally placed, anteriorly crossing aortic arch causing posterior displacement and significant anterior compression of the trachea. The posterior tracheal displacement and stenosis made the intubation quite difficult and challenging in this patient. Cross-sectional imaging with computed tomography angiography has an edge over echocardiography and conventional pulmonary angiography in demonstrating the anomalous posterior course of an LPA in the presence of coexisting RLA. MDCT imaging plays a pivotal role in evaluating the structural anatomy and thus provides with pertinent information regarding the cause and the level of airway obstruction.

Lung development requires an active ERK/MAPK pathway in the lung mesenchyme.

Reciprocal epithelial-mesenchymal communications are critical throughout lung development, dictating branching morphogenesis and cell specification. Numerous signaling molecules are involved in these interactions, but the way epithelial-mesenchymal crosstalk is coordinated remains unclear. The ERK/MAPK pathway transduces several important signals in lung formation. Epithelial inactivation of both Mek genes, encoding ERK/MAPK kinases, causes lung agenesis and death. Conversely, Mek mutation in mesenchyme results in lung hypoplasia, trachea cartilage malformations, kyphosis, omphalocele, and death. Considering the negative impact of kyphosis and omphalocele on intrathoracic space and, consequently, on lung growth, the exact role of ERK/MAPK pathway in lung mesenchyme remains unresolved. To address the role of the ERK/MAPK pathway in lung mesenchyme in absence of kyphosis and omphalocele, we used the Tbx4Cre deleter mouse line, which acts specifically in lung mesenchyme. These Mek mutants did not develop kyphosis and omphalocele but they presented lung hypoplasia, tracheal defects, and neonatal death. Tracheal cartilage anomalies suggested a role for the ERK/MAPK pathway in the control of chondrocyte hypertrophy. Moreover, expression data indicated potential interactions between the ERK/MAPK and canonical Wnt pathways during lung formation. Lung development necessitates a functional ERK/MAPK pathway in the lung mesenchymal layer in order to coordinate efficient epithelial-mesenchymal interactions. Developmental Dynamics 246:72-82, 2017. © 2016 Wiley Periodicals, Inc.

Agenesis of the Lung: A Comparison of Two Cases

Agenesis of the Lung: A Comparison of Two Cases

A Retinoic Acid-Hedgehog Cascade Coordinates Mesoderm-Inducing Signals and Endoderm Competence during Lung Specification

Organogenesis of the trachea and lungs requires a complex series of mesoderm-endoderm interactions mediated by WNT, BMP, retinoic acid (RA), and hedgehog (Hh), but how these pathways interact ina gene regulatory network is less clear. Using Xenopus embryology, mouse genetics, and human ES cell cultures, we identified a conserved signaling cascade that initiates respiratory lineage specification. We show that RA has multiple roles; first RA pre-patterns the lateral plate mesoderm and then itpromotes Hh ligand expression in the foregut endoderm. Hh subsequently signals back to the pre-patterned mesoderm to promote expression of the lung-inducing ligands Wnt2/2b and Bmp4. Finally, RA regulates the competence of the endoderm to activate the Nkx2-1+ respiratory program in response to these mesodermal WNT and BMP signals. These data provide insights into early lung development and a paradigm for how mesenchymal signals are coordinated with epithelial competence during organogenesis.

Primary repair of tetralogy of Fallot combined with unilateral left lung agenesis with crossed-ectopic right lower lobe

Unilateral lung agenesis is a rare congenital anomaly often combined with congenital malformations of different systems. A case of tetralogy of Fallot repair with unilateral left lung agenesis via median sternotomy is described for the first time. In this case, the choice of surgical approach to the heart could be affected by the fears of not getting optimal surgical exposition via median sternotomy due to severe displacement of the chest organs. The case demonstrates the median sternotomy as an optimal surgical approach even in high degrees of organ displacement caused by a combination of left pulmonary agenesis and cardiac lesions.

Isolated unilateral left upper lobe agenesis causing recurrent pneumonia: A case report

Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar agenesis of the left upper lung in a three month old girl causing recurrent chest infection is presented.J Nepal Paediatr Soc 2015;35(2):175-176

Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement

Congenital lung agenesis is an extremely rare condition with an estimated prevalence of 34 in 1,000,000 live births. It is often associated with other congenital malformations of the skeletal, cardiovascular, urogenital, and gastrointestinal systems. We discuss the case of a 5-month-old who presented with increasing stridor over 1 month. Imaging revealed right lung agenesis, complete dextromalposition of heart, and compression of distal trachea. An intrathoracic saline tissue expander was placed which marked improved distal tracheal stenosis. In patients who are symptomatic it becomes imperative to perform surgeries to increase survival as was the case in this patient.

Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl.

Lung agenesis is a rare condition which prognosis widely depends on associated malformations. Clinical presentation is so variable and diagnosis is often made in childhood. Here, we present a case of a 20-year-old girl who was admitted because of a spontaneous pneumothorax. Explorations concluded at a left lung agenesis, a hyperinflated right lung crossing the midline with a corresponding pneumothorax. There was no malformation else. This congenital condition and treatment for this rare presentation are discussed in detail.