138:
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agenesis, aplasia, and hypoplasia, which has been adopted by most researchers nowadays. As a clarification, the term “pulmonary agenesis” in this
Knowledge (XXG) page will only be referring to the agenesis in Boyden's classification, hence the information contained may not be valid for pulmonary aplasia or hypoplasia unless specifically mentioned.
186:
proliferation arrest of lung buds during embryo development, while the causes are still debatable. In many cases, it is associated with the occurrence of other inborn malformations. The estimated prevalence of pulmonary agenesis is 34/1,000,000 live births, with a slightly higher possibility in the female population.
177:, viral and genetic causes of pulmonary agenesis in an attempt to explain the pathogenesis of the disorder. In most cases of pulmonary agenesis, surgical resection is performed to remove the malformed lobe or the entire defected lung of the patient depending on the severity of the respiratory impairment.
712:
Pulmonary agenesis was a confusing term before Boyden's classification was published. Before that, the term agenesis was used frequently when reporting cases related to underdeveloped lungs, regardless of the degree of the underdevelopment. In 1955, Boyden classified pulmonary agenesis into 3 groups:
479:
Chest asymmetry, as a possible trait for pulmonary agenesis, is found to be more obvious in adult patients, especially in males. Breast development in females tends to make it less obvious for the observance of asymmetry, though it could still be indicated by a more conical shape and slightly higher
421:
Congenital diaphragmatic hernia (CDH), in this case, the upward displacement of the diaphragm and abdominal organs, is a possible clinical outcome detectable before birth. The displacement is caused by organ herniation occupying the empty space in the chest wall, while this space is created by the
315:
is bilateral or unilateral depends on the stage in which the arrest occurs during the embryonic stage of lung development. The earlier the occurrence of developmental arrest, the more severe the defect and the more likely that the agenesis will be bilateral. Bilateral pulmonary agenesis is highly
172:
is lethal, while the mortality rate of unilateral pulmonary agenesis is higher than 50%. Depending on the severity, the symptom ranges from none to various respiratory complaints. It is detectable prenatally, however, its nonspecific clinical features act as the obstacle for diagnosing. The exact
683:
still exceeds 50%. Most causes of death are because of the presence of associated anomalies and malformations, which are common for pulmonary agenesis especially involving right-sided defects. Those suffering right-sided defects normally have poorer prognosis than those with left-sided defects,
394:
The symptoms of pulmonary agenesis are unspecific, and their occurrence varies between individuals. These factors increased the difficulty for physicians to diagnose. So, there is a considerable time delay for the disease to be diagnosed, though it's capable of detection since birth or even
185:
Pulmonary agenesis is the complete absence of lung tissue, including bronchial tree, lung parenchyma, and supporting vasculatures. The only remaining part is rudimentary bronchus. Hence, the affected areas lose their function of gas exchange. This malformation is thought to involve the
470:, a possible outcome when agenesis is present on the right lung. With empty space in the chest wall, the heart rotates in clockwise direction, shifting the location for apex beat occurrence. Hence cardiac physical examination also helps as heart sounds is heard best at right chest with
307:
life. The difference between pulmonary agenesis and aplasia is that pulmonary agenesis has complete absence of lung tissue, airways, and lung vessels while pulmonary aplasia has complete absence of lung tissue and lung vessels, but have some incompletely developed short airways.
225:
sets limits on patients’ exercise tolerance, and contribute to shortness of breath after exercises. The retention of bronchial secretions often leads to recurrent pulmonary infections, adding to damage in lung function, hence causing respiratory stress.
197:
Bilateral pulmonary agenesis means that both sides of the lung are absent, its occurrence is rare compared to unilateral pulmonary agenesis. The fetus loses the ability to do gas exchange post-delivery, and is hence incompatible with life after birth.
209:
The clinical features varies in individuals from asymptomatic to various respiratory complaints. The occurrences of symptoms also vary from infant stage to childhood, teenager, and adult life. Frequently seen clinical features includes
572:
403:
Prenatal diagnosis of pulmonary agenesis is yet to be reached satisfaction, due to the technical difficulties in differentiating this disorder with other malformation. Only a few cases of reported cases are diagnosed before birth.
595:
for treating pulmonary agenesis was first reported in Berlin, Germany which was then followed by reports from
Bordeaux, France and Verona, Italy. The main focus of the treatment procedure is to preserve the remaining functional
238:
associated with this type of disorder. Although some cases of bilateral pulmonary agenesis were reported as an isolated finding, most cases of pulmonary agenesis are associated with other anomalies, especially in the
1329:
Induced in Rats by
Maternal Vitamin A Deficiency: II. Effect of Varying the Preparatory Diet Upon the Yield of Abnormal Young: Four Figures, The Journal of Nutrition, Volume 35, Issue 1, January 1948, Pages 1–11,
168:
life, and it is often associated with other developmental defects. Bilateral and unilateral pulmonary agenesis are classified, depending on whether one side of the lung or both sides are affected.
692:, and also because cases with right-sided lung disorders have shown higher association rates with other anomalies. In fact, it has been suggested that right-sided defects produce a more severe
412:
is frequently used for prenatal testing. High frequency of associated abnormalities (see the section - "Associated
Abnormalities" for details) may also lead to suspicion of pulmonary agenesis.
137:
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or within the first few hours after birth. Numerous cases of bilateral pulmonary agenesis, where both lungs have been affected, have been reported previously. On the other hand, the
386:
cause for pulmonary agenesis has also been raised. It has been said that the gene responsible for the cause of pulmonary agenesis may have variable expressivity and penetrance.
34:
418: could visually capture the blood flow, hence determine the existence of pulmonary vasculature. It is also a frequently used technique for pulmonary agenesis diagnosis.
287:
Although pulmonary agenesis, aplasia and hypoplasia are lethal congenital disorders all resulting from underdevelopment of lungs, pulmonary agenesis and aplasia differ from
234:
Considering the fact that a large proportion of mortality cases of pulmonary agenesis are partly due to the presence of associated malformations, it is common to find other
1444:
221:
Lung function is significantly affected in cases of pulmonary agenesis, demonstrated by reduction in forced expiratory volume and forced vital capacity. This reduction in
643:. Such procedure is necessary for babies who require airway support so that they are provided with a functioning airway before they are detached from their mother's
374:
may cause pulmonary agenesis. Some authors have suggested vascular cause of pulmonary agenesis similar to the causes for intestinal atresia and others suggested
164:
is an inborn lung underdevelopment that is rare and potentially lethal. The disorder is caused by a complete developmental arrest of the primitive lung during
1243:
Ashcraft, K. W., Holcomb, G. W., Murphy, J. P., & Ostlie, D. J. (2010). Ashcraft's pediatric surgery (5th ed.). Philadelphia: Saunders/Elsevier.
815:
Meller, Cesar; Morris, Katie; Desai, Tarak; Kilby, Mark (2012). "Prenatal
Diagnosis of Isolated Right Pulmonary Agenesis Using Sonography Alone".
324:. In this case, the absence of lung buds or pleural cavities is observed, thus making the case of bilateral pulmonary agenesis highly lethal.
1358:
1218:
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206:
The severity of unilateral pulmonary agenesis varies depending on the area of tissue affected, being either a single lobe or a whole lung.
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https://www.hopkinsmedicine.org/gynecology_obstetrics/specialty_areas/fetal_therapy/fetal-interventions-procedures/ex_utero_intrapartum_t
189:
Two types of pulmonary agenesis are classified based on the severity of underdevelopment: bilateral and unilateral pulmonary agenesis.
1443:
Ex-Utero
Intrapartum Treatment: Johns Hopkins Center for Fetal Therapy in Baltimore, Md. (May 7, 2019). Retrieved April 4, 2020, from
331:. Either one side of the lung fails completely, leading to pulmonary aplasia, or one side of the lung is underdeveloped, leading to
95:
575:
Chest radiograph of a 3-year-old who underwent right pulmonary plombage with insertion of three Ping-Pong balls 1 year earlier.
67:
591:
in an attempt to shift the mediastinum back to its anatomical location. Such surgical procedure involving the implantation of
339:. These defects occur during the early stage of lung development, although not as early as bilateral pulmonary agenesis, when
458:
assists in detecting the presence of pulmonary artery branches, differentiating pulmonary agenesis to hypoplasia and aplasia.
679:
of the remaining lung to compensate for the lost lung is common in the case of unilateral pulmonary agenesis. However, the
1123:"Congenital lung abnormalities: embryologic features, prenatal diagnosis, and postnatal radiologic-pathologic correlation"
74:
685:
354:
Although the exact cause of the disorder remains obscure, theories have been advanced throughout history to explain the
422:
absence of lung tissue. However, it's important to note that a list of other disorders could also be the cause of CDH.
42:
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and the presence of associated anomalies. The majority of patients diagnosed with bilateral pulmonary agenesis die in
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445:, and move towards the empty space in the chest wall on the opposite side. This herniation could be indicated by
260:
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320:, the primary structure developed in the earliest stage of embryonic development that gives rise to the entire
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63:
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experiment done in rats, researchers observed lung aplasia in animals that were fed with a diet deficient in
415:
540:
of upper lobes of lungs used between the 1930s and 1950s. During the operation, a cavity is created by the
517:
or the entire defected lung. Removing the malformed part of the lung helps reduce symptoms and chances of
214:, respiratory distress, recurrent pulmonary infections, and limited exercise tolerance. Rapid heartbeat,
173:
cause of pulmonary agenesis is still obscure. However, theories have been raised regarding the vascular,
763:
Maltz, David; Nadas, Alexander (1968). "Presentation of Eight New Cases and Review of the
Literature".
1517:
722:
367:
296:
292:
288:
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Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook (2010).
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Fetology: Diagnosis and
Management of the Fetal Patient, 2e. (n.d.). Retrieved April 4, 2020, from
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On the other hand, unilateral pulmonary agenesis is caused by the imbalance in the development of
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Several techniques are frequently involved in the diagnosis of pulmonary agenesis after birth:
1493:
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Bradley P. Fuhrman and Jerry J. Zimmerman. (2011). Pediatric
Critical Care (4th ed.). p. 599.
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1255:"Pulmonary agenesis, pulmonary aplasia and pulmonary hypoplasia: Can you differentiate them?"
1162:
Nikam, Vasudha; Nagure, Pramod (2018). "Agenesis of Right Lung: A Rare
Congenital Disorder".
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partly because the right side of the lung is usually more prone to infection considering the
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of the disorder. In most cases, surgical resection is performed to remove the nonfunctioning
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474:. In the condition of left side agenesis, heart sounds will appear to be louder than normal.
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Prognosis of pulmonary agenesis depends on the degree of pulmonary involvement during the
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549:
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for babies with extensive lung defects in a relatively stabilized condition after birth.
982:
Dordea Leonte, Laura (2013). "Fetology. Diagnosis and Management of the Fetal Patient".
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The treatment is dependent on the severity of respiratory impairment and the underlying
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Bradley P. Fuhrman and Jerry J. Zimmerman (2011). Pediatric Critical Care (4th ed.).
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861:. Fuhrman, Bradley P. (4th ed.). Philadelphia, PA: Elsevier Saunders. 2011.
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568:. As a result, the mediastinal and skeletal shift toward the volume loss side.
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Plombage: Radiology Reference Article. (2018). Retrieved April 4, 2020, from
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D. R., Biyyam; T, Chapman; M. R., Ferguson; G, Deutsch; M. K., Dighe (2010).
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which in most cases result from the incomplete development of lung during
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Verwey, Charl; Van der Merwe, Cornelis; Pillay, Tanyia (April 28, 2017).
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result from a complete developmental arrest of the primitive lung during
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if you can. Unsourced or poorly sourced material may be challenged and
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rare and it is caused by the complete failure in the development of
1382:"Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report"
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366:. From the result of this experiment, a theory was raised that
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respiratory primordium. (n.d.). Retrieved April 4, 2020, from
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Susan E, Wert (2004). Fetal and Neonatal Physiology (3rd ed.).
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also contributes to the observation of patients’ lung anatomy.
145:
Chest radiograph of a woman with unilateral pulmonary agenesis
17:
1295:
https://medical-dictionary.thefreedictionary.com/respiratory
251:
systems. Frequently associated congenital anomalies include
1062:
Vettraino, Ivana; Tawil, Abir; Comstock, Christine (2003).
1460:
Sadiqi, Jamshid; Hamidi, Hidayatullah (October 30, 2018).
1315:
https://obgyn.mhmedical.com/content.aspx?bookid=1306§ionid
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of lung development, as well as the patient's history of
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technique involves partial delivery of a baby through an
619:
If the defect is extensive but there is a chance for the
1462:"CT features of lung agenesis – a case series (6 cases)"
49:
1103:J. E., Skandalakis; S. W., Gray; P, Symbas (1994).
1017:Holder, Tom; Ashcraft, Keith (2010), "Dedication",
382:factors as potential causes of pulmonary agenesis.
149:
130:
536:, is a historical treatment procedure for cavity
218:, chest asymmetry, dullness may also be present.
627:may be performed to salvage the potential life.
441:. The unaffected side of lung tends to undergo
48:Please review the contents of the article and
579:Recent approach involves the implantation of
534:extraperiosteal or extrapleural pneumonolysis
437:is effective in detecting the traits of lung
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480:location of the breast on the affected side.
639:while remaining attached to their mother's
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343:bifurcates into right and left primitive
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1325:Josef Warkany, Carolyn B. Roth (1948).
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544:placement of inert materials, commonly
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291:in their underlying cause. Unlike
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1332:https://doi.org/10.1093/jn/35.1.1
1068:Journal of Ultrasound in Medicine
933:Booth, J.B.; Berry, C.L. (1967).
817:Journal of Ultrasound in Medicine
347:at the end of the fourth week of
528:to render the empty hemithorax.
524:In the past, patients underwent
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935:"Unilateral Pulmonary Agenesis"
406:Prenatal sonographic evaluation
1107:(2 ed.). pp. 429–32.
1064:"Bilateral Pulmonary Agenesis"
358:of lung agenesis. Based on an
50:add the appropriate references
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651:procedure is used to perform
602:musculoskeletal disfigurement
202:Unilateral pulmonary agenesis
1176:10.22038/ijp.2018.29561.2593
1019:Ashcraft's Pediatric Surgery
686:standard anatomical position
606:tissue expander implantation
193:Bilateral pulmonary agenesis
170:Bilateral pulmonary agenesis
1386:Korean Journal of Radiology
1133:(6) (6 ed.): 1721–38.
829:10.7863/jum.2012.31.12.2017
35:reliable medical references
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498:Magnetic resonance imaging
1479:10.1186/s12880-018-0281-5
1398:10.3348/kjr.2010.11.1.119
1081:10.7863/jum.2003.22.7.723
299:, pulmonary agenesis and
261:tracheoesophageal fistula
144:
135:
41:or relies too heavily on
1327:Congenital Malformations
1021:, Elsevier, pp. v,
600:and prevent significant
269:patent ductus arteriosus
1272:10.4102/sajr.v21i1.1163
1105:Embryology for Surgeons
859:Pediatric critical care
466:is useful in detecting
951:10.1136/adc.42.224.361
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576:
546:Lucite (acrylic) balls
341:respiratory primordium
318:respiratory primordium
777:10.1542/peds.42.1.175
574:
275:and anomalies of the
1140:10.1148/rg.306105508
996:10.4183/aeb.2013.657
984:Acta Endocrinologica
723:Pulmonary hypoplasia
669:pulmonary infections
368:vitamin A deficiency
297:prenatal development
293:pulmonary hypoplasia
289:pulmonary hypoplasia
236:congenital anomalies
230:Associated anomalies
64:"Pulmonary agenesis"
1466:BMC Medical Imaging
410:Biophysical profile
273:tetralogy of Fallot
577:
526:pulmonary plombage
265:bronchogenic cysts
257:esophageal atresia
181:Signs and symptoms
162:Pulmonary agenesis
131:Pulmonary agenesis
1359:978-0-323-07307-3
1219:978-0-323-07307-3
1036:978-1-4160-6127-4
868:978-0-323-08170-2
696:, distorting the
694:mediastinal shift
589:thoracoscopically
464:Electrocardiogram
322:respiratory tract
253:tracheal stenosis
223:total lung volume
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66: –
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60:Find sources:
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31:This article
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1074:(7): 723–6.
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623:to live, an
618:
578:
562:paraffin wax
538:tuberculosis
523:
508:
490:bronchoscopy
472:dextrocardia
468:dextrocardia
429:
420:
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395:prenatally.
393:
356:pathogenesis
353:
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311:Whether the
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39:verification
32:
15:
1518:Pulmonology
1297:primordium.
677:hypertrophy
610:mediastinal
585:thoracotomy
456:angiography
447:fluoroscopy
443:hypertrophy
435:Chest X-ray
426:After birth
155:Pulmonology
33:needs more
990:(4): 657.
765:Pediatrics
729:References
454:Pulmonary
439:herniation
376:Iatrogenic
337:hypoplasia
175:iatrogenic
105:April 2020
75:newspapers
1472:(1): 37.
1281:2078-6778
1004:1841-0987
885:cite book
877:722808791
785:245064698
688:of right
659:Prognosis
608:, as the
505:Treatment
390:Diagnosis
372:pregnancy
364:vitamin A
349:gestation
345:lung buds
333:dysplasia
329:lung buds
305:embryonic
166:embryonic
151:Specialty
1512:Category
1498:30376819
1416:20046503
1149:21071385
1090:12862273
845:11325835
837:23197556
717:See also
690:bronchus
645:placenta
641:placenta
633:incision
614:skeletal
530:Plombage
511:etiology
399:Prenatal
360:in vitro
313:disorder
216:cyanosis
1489:6208179
1407:2799641
969:4951635
960:2019767
708:History
698:trachea
635:in the
486:CT scan
384:Genetic
370:during
301:aplasia
212:dyspnea
89:scholar
54:removed
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637:uterus
598:tissue
564:, and
283:Causes
249:ocular
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62:
1265:(1).
841:S2CID
781:S2CID
673:utero
621:fetus
566:gauze
380:viral
96:JSTOR
82:books
1494:PMID
1412:PMID
1355:ISBN
1277:ISSN
1215:ISBN
1145:PMID
1086:PMID
1031:ISBN
1000:ISSN
965:PMID
891:link
873:OCLC
863:ISBN
833:PMID
700:and
649:EXIT
629:EXIT
612:and
554:oils
515:lobe
496:and
378:and
247:and
68:news
37:for
1484:PMC
1474:doi
1402:PMC
1394:doi
1267:doi
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955:PMC
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587:or
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