Respiratory System - Abnormalities

Embryology - 16 Apr 2024        Expand to Translate
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Introduction

Human congenital diaphragmatic hernia

Abnormalities of the respiratory system include not only lung development but also the upper respiratory tract, the supporting musculoskeletal system and the vascular and neural system. In addition, some respiratory problems arise from prematurity of birth or difficulty with the birth process itself.

The functional part of the respiratory system, the alveoli, continue to develop the postnatal period and through childhood (Postnatal alveoli number graph).

International Classification of Diseases - Respiratory

Some Recent Findings

Longitudinal assessment of lung function in extremely prematurely born children'Bold text' "To assess longitudinally small airway function in children born extremely prematurely and whether there was a correlation between airway function in infancy and at 11-14 years. Thirty-five children with a mean gestational age of 26 weeks had lung function assessed at 1 year corrected and 11-14 years of age. These results demonstrate in those born extremely prematurely there is tracking of airway function during childhood." Birth - Preterm Trends in treatment and in-hospital mortality for neonates with congenital diaphragmatic hernia "We performed a retrospective cohort study in order to examine recent trends in use of post-partum treatments and in-hospital mortality for congenital diaphragmatic hernia (CDH). Survival improved in large subgroups of term or near-term infants with CDH in this 10-year multicenter cohort, temporally associated with increasing use of multiple vasodilators. Use of vasodilators for infants with CDH is increasing despite a lack of evidence supporting efficacy or safety. Prospective research is needed to clarify specific causal effects contributing to improving survival in these infants." Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). "Surfactant deficiency and the resultant respiratory distress syndrome (RDS) seen in preterm infants is a major cause of respiratory morbidity in this population. Until recently, the contribution of surfactant to respiratory morbidity in infancy was limited to the neonatal period. It is now recognised that inborn errors of surfactant metabolism leading to surfactant dysfunction account for around 10% of childhood interstitial lung disease (chILD)."

More recent papers

This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Respiratory Development' <pubmed limit=5>Abnormal Respiratory Development</pubmed> Newborn Respiratory Distress Syndrome <pubmed limit=5>Newborn Respiratory Distress Syndrome</pubmed>

Premature Birth

chorioamnionitis

Preterm delivery and overview of related potential fetal and neonatal infections can effect lung development.

After very preterm birth, the chorioamnionitis associated commensal organism is usually Ureaplasma urealyticum.

Links: Chorioamnionitis | Bacterial Infection

Tracheoesophageal Fistula

(Tracheo-Oesophageal Fistula, Oesophageal Atresia) - Oesophageal Atresia with or without tracheo-oesophageal fistula

Laryngeal-tracheo-oesophageal Cleft

Laryngeal-Tracheo-Oesophageal Ceft, Type III LC, endoscopic view

(LC, laryngeal cleft) A rare foregut abnormality allowing digestive tract and the airway to communicate causing chronic cough, aspiration and respiratory distress.

The downward extension of the cleft determines the classification of the abnormality, see also review.</ref>

• Type 0 - submucosal cleft
• Type I - supraglottic, interarytenoid cleft, above the vocal fold level
• Type II - cleft extending below the vocal folds into the cricoid cartilage
• Type III a - cleft extending through the cricoid cartilage but not into the trachea
• Type III b - cleft extending through the cricoid cartilage and into the cervical trachea
• Type IV - cleft extending into the thoracic trachea, potentially down to the carina

Lobar Emphysema (Overinflated Lung)

Congenital lobar emphysema

1. There is an overinflated left upper lobe
2. There is a collapsed lower lobe
3. The left lung is herniating across the mediastinum

Congenital Diaphragmatic Hernia

Really a musculoskeletal abnormality, but included here due to the associated respiratory effects. Failure of the pleuroperitoneal foramen (foramen of Bochdalek) to close allows viscera into thorax, most common (80-85%) on the left side of diaphragm. Intestine, stomach or spleen can enter the pleural cavity, compressing the lung.

Normal Adult Diaphragm	Human congenital diaphragmatic hernia

Left posterolateral diaphragmatic hernia A - Plain X-ray of the thorax of a newborn with CDH. There are bowel loops into the left hemi-thorax, the mediastinum is displaced to the contralateral side and the space occupied by the lung is reduced. B - small bowel loops can be seen entering the thorax through the orifice. C - seen after reducing the contents of the hernia. D - At autopsy, extreme left lung hypoplasia and less severe right lung hypoplasia were discovered.

Australian Statistics

A recent Western Australian study of congenital diaphragmatic hernia (CDH) outcomes showed:

• 35% of live-born infants died before referral or transport.
• population of infants reaching center represented only 40% of the total cases
• 92% percent of postoperative infants survived beyond 1 year of age
• 80% of infants who reached the surgical referral center
• only 52% of live-born infants, 32% of all cases, and 16% of all prenatally diagnosed cases survived.
• the overall mortality rate for this condition remains high
• 33% of all cases of CDH and 49% of prenatally diagnosed fetuses underwent elective termination of pregnancy
• the number of fetal terminations confounds the accurate assessment of the true outcomes of this condition

Links: Musculoskeletal System - Abnormalities | GeneReviews

Azygos Lobe

Lung azygos lobe in the adult.

Common anatomical variation occurring in about 0.5% of the population. The right lung upper lobe expands either side of the posterior cardinal. There is also some course variability of the phrenic nerve in the presence of an azygos lobe.

Congenital Laryngeal Webs

Laryngeal abnormality due to embryonic (week 10) incomplete recanalization of the laryngotracheal tube during the fetal period. Rare abnormality occuring mainly at the level of the vocal folds (glottis).

Meconium Aspiration Syndrome

Newborn X-ray Meconium aspiration syndrome

(MAS) Meconium is the gastrointestinal contents that accumulate in the intestines during the fetal period. Fetal stress in the third trimester, prior to/at/ or during parturition (birth) can lead to premature meconium discharge into the amniotic fluid and sunsequent ingestion by the fetus and damage to respiratory function. Damage to placental vessels meconium myonecrosis may also occur.

• meconium is formed from gut and associated organ secretions as well as cells and debris from the swallowed amniotic fluid.
• Meconium accumulates during the fetal period in the large intestine (bowel). It can be described as being a generally dark colour (green black) , sticky and odourless.
• Normally this meconium is defaecated (passed) postnatally over the first 48 hours and then transitional stools from day 4.
• Abnormally this meconium is defaecated in utero, due to oxygen deprivation and other stresses. Premature discharge into the amniotic sac can lead to mixing with amniotic fluid and be reswallowed by the fetus. This is meconium aspiration syndrome and can damage both the developing lungs and placental vessels.

Australian Statistics

The following Australia and New Zealand (1995 - 2002) data is from a recent (2009) study, the epidemiology of meconium aspiration syndrome: incidence, risk factors, therapies, and outcome.

• Data were gathered on all of the infants in Australia and New Zealand who were intubated and mechanically ventilated with a primary diagnosis of MAS (MASINT) between 1995 and 2002, inclusive.
• MASINT occurred in 1061 of 2,490,862 live births (0.43 of 1000), with a decrease in incidence from 1995 to 2002.
• A higher risk of MASINT was noted at advanced gestation, with 34% of cases born beyond 40 weeks, compared with 16% of infants without MAS.
• Fetal distress requiring obstetric intervention was noted in 51% of cases, and 42% were delivered by cesarean section.
• There was a striking association between low 5-minute Apgar score and MASINT.
• Risk of MASINT was higher where maternal ethnicity was Pacific Islander or indigenous Australian and was also increased after planned home birth.
• Uptake of exogenous surfactant, high-frequency ventilation, and inhaled nitric oxide increased considerably during the study period, with >50% of infants receiving > or =1 of these therapies by 2002.
• Risk of air leak was 9.6% overall, with an apparent reduction to 5.3% in 2001-2002.
• The duration of intubation remained constant throughout the study period (median: 3 days), whereas duration of oxygen therapy and length of hospital stay increased.
• Death related to MAS occurred in 24 infants (2.5% of the MASINT cohort; 0.96 per 100,000 live births).

Newborn Respiratory Distress Syndrome

Prof. Mary Ellen Avery

The historic name of "Hyaline Membrane Disease" (HMD) described the "glassy" appearance of the premature neonatal lungs due to insufficient surfactant.

Surfactant deficiency in immature lungs leads to:

1. alveolar instability and collapse
2. capillary leak edema
3. hyaline membrane formation

Links: medline plus | eMedicine

Hyaline Membrane Disease History

See the recent review of Hyaline Membrane Disease (HMD) history and surfactant.

• 1835 - first description in premature babies born with immature “fetal lungs.”
• 1947 - pressure required to inflate deceased newborn lungs lower when saline was introduced into the lungs.
• 1959 - concept that HMD due to lack of surfactant (Prof. Mary Ellen Avery).
• 1980 - first study on endotracheal administration of surfactant in premature infants.

Surfactant Metabolism

(pulmonary surfactant metabolism dysfunctions, surfactant dysfunction disorders) For review of genetic disorders of surfactant dysfunction

Mutations in the genes encoding:

• surfactant protein B (SP-B)
• surfactant protein C ( SP-C)
• phospholipid transporter ABCA3

Bronchopulmonary Dysplasia

A chronic lung disease which can occur following premature birth and related lung injury. The definition of bronchopulmonary dysplasia (BPD) has in recent years changed from a severe lung injury and associated repair, to more of a disruption of lung growth in older infants.

Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 1,000 grams (about 2 pounds) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD.

Links: NIH - NHLBI

Lung Agenesis

Agenesis of Left lung (X Ray)

Prevalence, including the bilateral and unilateral forms, is 0.5-1.0 per 10,000 live births.

Cystic Fibrosis

UK deaths from cystic fibrosis

Cystic Fibrosis (CF) is a serious genetic disease due to abnormal chloride channel synthesis (cystic fibrosis transmembrane conductance regulator, CFTR), the impact occurs postnatally. Mucus accumulates mainly in the passages of the lungs and in the pancreas.

Links: PubMed Health | OMIM | USA National Heart Lung and Blood Institute | Cystic Fibrosis Australia

OMIM

List of respiratory related abnormalities Respiratory and Diaphragmatic Hernia.

References

Reviews

Gur M, Hakim F & Bentur L. (2017). Better understanding of childhood asthma, towards primary prevention - are we there yet? Consideration of pertinent literature. F1000Res , 6, 2152. PMID: 29333254 DOI.

Aly H, Mohamed MA & Wung JT. (2017). Surfactant and continuous positive airway pressure for the prevention of chronic lung disease: History, reality, and new challenges. Semin Fetal Neonatal Med , 22, 348-353. PMID: 28818610 DOI.

Clement A, Nathan N, Epaud R, Fauroux B & Corvol H. (2010). Interstitial lung diseases in children. Orphanet J Rare Dis , 5, 22. PMID: 20727133 DOI.

Thébaud B & Abman SH. (2007). Bronchopulmonary dysplasia: where have all the vessels gone? Roles of angiogenic growth factors in chronic lung disease. Am. J. Respir. Crit. Care Med. , 175, 978-85. PMID: 17272782 DOI.

Hartl D & Griese M. (2005). Interstitial lung disease in children -- genetic background and associated phenotypes. Respir. Res. , 6, 32. PMID: 15819986 DOI.

Articles

Sztanó B, Torkos A & Rovó L. (2010). The combined endoscopic management of congenital laryngeal web. Int. J. Pediatr. Otorhinolaryngol. , 74, 212-5. PMID: 20004027 DOI.

Shannon EH. (1931). THE AZYGOS LOBE OF THE LUNG. Can Med Assoc J , 24, 498-500. PMID: 20318245

Mata J, Cáceres J, Alegret X, Coscojuela P & De Marcos JA. (1991). Imaging of the azygos lobe: normal anatomy and variations. AJR Am J Roentgenol , 156, 931-7. PMID: 2017954 DOI.

Whitfield JM, Charsha DS & Chiruvolu A. (2009). Prevention of meconium aspiration syndrome: an update and the Baylor experience. Proc (Bayl Univ Med Cent) , 22, 128-31. PMID: 19381312

Speckman JM, Gamsu G & Webb WR. (1981). Alterations in CT mediastinal anatomy produced by an azygos lobe. AJR Am J Roentgenol , 137, 47-50. PMID: 6787889 DOI.

Baumgartner FJ. (2009). Thoracoscopic surgery for hyperhidrosis in the presence of congenital azygous lobe and its suspensory web. Tex Heart Inst J , 36, 44-7. PMID: 19436785

Search Pubmed

Search Pubmed: Respiratory System Developmental Abnormalities | Tracheoesophageal Fistula | Bronchopulmonary Dysplasia | Congenital Laryngeal Webs | Hyaline Membrane Disease | Meconium Aspiration Syndrome

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

• AAFP - Respiratory Distress in the Newborn
• NZ - Parenchymal Lung Disease
• Cystic Fibrosis Australia
• Medline Plus - Diaphragmatic hernia

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Cite this page: Hill, M.A. (2024, April 16) Embryology Respiratory System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Respiratory_System_-_Abnormalities

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G