Respiratory System - Abnormalities
|Embryology - 30 Mar 2017 Expand to Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Premature Birth
- 4 Tracheoesophageal Fistula
- 5 Laryngeal-tracheo-oesophageal Cleft
- 6 Lobar Emphysema (Overinflated Lung)
- 7 Congenital Diaphragmatic Hernia
- 8 Azygos Lobe
- 9 Congenital Laryngeal Webs
- 10 Meconium Aspiration Syndrome
- 11 Newborn Respiratory Distress Syndrome
- 12 Surfactant Metabolism
- 13 Bronchopulmonary Dysplasia
- 14 Lung Agenesis
- 15 Cystic Fibrosis
- 16 OMIM
- 17 References
- 18 External Links
- 19 Glossary Links
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.
International Classification of Diseases - Respiratory
The functional part of the respiratory system, the alveoli, continue to develop the postnatal period and through childhood (Postnatal alveoli number graph).
|Abnormality Links: Introduction | Genetic | Environmental | Unknown | Teratogens | Cardiovascular | Coelomic Cavity | Endocrine | Gastrointestinal Tract | Genital | Head | Integumentary | Musculoskeletal | Limb | Neural | Neural Crest | Renal | Respiratory | Placenta | Sensory | Hearing | Vision | Twinning | Developmental Origins of Health and Disease | ICD-10|
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
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.
Hossein Hassanian-Moghaddam, Masumeh Hakiminejhad, Fariba Farnaghi, Amirhossein Mirafzal, Nasim Zamani, Ali Kabir Eleven years of children methadone poisoning in a referral center: A review of 453 cases. J Opioid Manag: 2017, 13(1);27-36 PubMed 28345744
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. Am. J. Med. Genet. A: 2017; PubMed 28332779
Tutku Soyer, Sule Yalcin, Selen Serel Arslan, Numan Demir, Feridun Cahit Tanyel Pediatric Eating Assessment Tool-10 as an indicator to predict aspiration in children with esophageal atresia. J. Pediatr. Surg.: 2017; PubMed 28318598
Paula M Brna, A Simon Harvey, Richard J Leventer Hemispheric polymicrogyria and neonatal seizures: a potentially life-threatening combination. Epileptic Disord: 2017; PubMed 28300030
Thanushiyan Poobalasingam, Laura L Yates, Simone A Walker, Miguel Pereira, Nina Y Gross, Akmol Ali, Maria Kolatsi-Joannou, Marjo-Riitta Jarvelin, Juha Pekkanen, Eugenia Papakrivopoulou, David A Long, Mark Griffiths, Darcy Wagner, Melanie Königshoff, Matthew Hind, Cosetta Minelli, Clare M Lloyd, Charlotte H Dean Heterozygous Vangl2(Looptail) mice reveal novel roles for the planar cell polarity pathway in adult lung homeostasis and repair. Dis Model Mech: 2017; PubMed 28237967
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.
(Tracheo-Oesophageal Fistula, Oesophageal Atresia) - Oesophageal Atresia with or without tracheo-oesophageal fistula
(LC, laryngeal cleft) A rare foregut abnormality allowing digestive tract and the airway to communicate causing chronic cough, aspiration and respiratory distress.
- 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)
- There is an overinflated left upper lobe
- There is a collapsed lower lobe
- 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.
| Left posterolateral diaphragmatic hernia
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
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
(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.
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
Surfactant deficiency in immature lungs leads to:
- alveolar instability and collapse
- capillary leak edema
- hyaline membrane formation
(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
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
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 (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
- Jason C Fisher, Lawrence Bodenstein Computer simulation analysis of normal and abnormal development of the mammalian diaphragm. Theor Biol Med Model: 2006, 3;9 PubMed 16483386 | Theor Biol Med Model.
- J I Hagadorn, E A Brownell, K W Herbst, J M Trzaski, S Neff, B T Campbell Trends in treatment and in-hospital mortality for neonates with congenital diaphragmatic hernia. J Perinatol: 2015; PubMed 25950919
- Lynne McFetridge, Aoife McMorrow, Patrick J Morrison, Michael D Shields Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). Ulster Med J: 2009, 78(1);7-9 PubMed 19252722
- Chong Jai Kim, Roberto Romero, Juan Pedro Kusanovic, Wonsuk Yoo, Zhong Dong, Vanessa Topping, Francesca Gotsch, Bo Hyun Yoon, Je Geun Chi, Jung-Sun Kim The frequency, clinical significance, and pathological features of chronic chorioamnionitis: a lesion associated with spontaneous preterm birth. Mod. Pathol.: 2010, 23(7);1000-11 PubMed 20348884 | Mod Pathol.
- A H Jobe, M Ikegami Antenatal infection/inflammation and postnatal lung maturation and injury. Respir. Res.: 2001, 2(1);27-32 PubMed 11686862 | PMC59566 | Respir Res.
- R L Goldenberg, J C Hauth, W W Andrews Intrauterine infection and preterm delivery. N. Engl. J. Med.: 2000, 342(20);1500-7 PubMed 10816189
- Nicolas Leboulanger, Eréa-Noël Garabédian Laryngo-tracheo-oesophageal clefts. Orphanet J Rare Dis: 2011, 6;81 PubMed 22151899
- B Benjamin, A Inglis Minor congenital laryngeal clefts: diagnosis and classification. Ann. Otol. Rhinol. Laryngol.: 1989, 98(6);417-20 PubMed 2729823
- Kishore Sandu, Philippe Monnier Endoscopic laryngotracheal cleft repair without tracheotomy or intubation. Laryngoscope: 2006, 116(4);630-4 PubMed 16585871
- Juan A Tovar Congenital diaphragmatic hernia. Orphanet J Rare Dis: 2012, 7;1 PubMed 22214468 | Orphanet J Rare Dis.
- Joanne Colvin, Carol Bower, Jan E Dickinson, Jenni Sokol Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics: 2005, 116(3);e356-63 PubMed 16140678
- Peter A Dargaville, Beverley Copnell, Australian and New Zealand Neonatal Network The epidemiology of meconium aspiration syndrome: incidence, risk factors, therapies, and outcome. Pediatrics: 2006, 117(5);1712-21 PubMed 16651329
- Susan E Wert, Jeffrey A Whitsett, Lawrence M Nogee Genetic disorders of surfactant dysfunction. Pediatr. Dev. Pathol.: 2009, 12(4);253-74 PubMed 19220077
- Kathleen M Deakins Bronchopulmonary dysplasia. Respir Care: 2009, 54(9);1252-62 PubMed 19712501
- | J Bras Pneumol.
- PMID 21862532 | BMJ
Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux, Harriet Corvol Interstitial lung diseases in children. Orphanet J Rare Dis: 2010, 5;22 PubMed 20727133
Bernard Thébaud, Steven H Abman Bronchopulmonary dysplasia: where have all the vessels gone? Roles of angiogenic growth factors in chronic lung disease. Am. J. Respir. Crit. Care Med.: 2007, 175(10);978-85 PubMed 17272782
Dominik Hartl, Matthias Griese Interstitial lung disease in children -- genetic background and associated phenotypes. Respir. Res.: 2005, 6;32 PubMed 15819986
Jonathan M Whitfield, Dianne S Charsha, Arpitha Chiruvolu Prevention of meconium aspiration syndrome: an update and the Baylor experience. Proc (Bayl Univ Med Cent): 2009, 22(2);128-31 PubMed 19381312
B Sztanó, A Torkos, L Rovó The combined endoscopic management of congenital laryngeal web. Int. J. Pediatr. Otorhinolaryngol.: 2010, 74(2);212-5 PubMed 20004027
E H Shannon THE AZYGOS LOBE OF THE LUNG. Can Med Assoc J: 1931, 24(4);498-500 PubMed 20318245
J Mata, J Cáceres, X Alegret, P Coscojuela, J A De Marcos Imaging of the azygos lobe: normal anatomy and variations. AJR Am J Roentgenol: 1991, 156(5);931-7 PubMed 2017954
J M Speckman, G Gamsu, W R Webb Alterations in CT mediastinal anatomy produced by an azygos lobe. AJR Am J Roentgenol: 1981, 137(1);47-50 PubMed 6787889
Fritz J Baumgartner Thoracoscopic surgery for hyperhidrosis in the presence of congenital azygous lobe and its suspensory web. Tex Heart Inst J: 2009, 36(1);44-7 PubMed 19436785
Search Pubmed: Respiratory System Developmental Abnormalities | Tracheoesophageal Fistula | Bronchopulmonary Dysplasia | Congenital Laryngeal Webs | Hyaline Membrane Disease | Meconium Aspiration Syndrome
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- AAFP - Respiratory Distress in the Newborn
- NZ - Parenchymal Lung Disease
- Cystic Fibrosis Australia
- Medline Plus - Diaphragmatic hernia
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