Advertisement

Rare Lung Diseases of Newborns

Living reference work entry
First Online:
  • 395 Downloads

Abstract

Rare causes of respiratory distress in the newborn, mainly in term infants, need to be considered in uncommon and atypical circumstances. Embryological, pathological, surgical, antenatal, or pediatric classifications for rare lung diseases have been reported. The following is a description of rare but not negligible pulmonary diseases causing respiratory distress with neonatal presentation.

Parenchymal diseases and cystic lung diseases are briefly dealt with in order to favor the clinical approach and the diagnostic orientation in these rare and often life-threatening conditions.

Keywords

Congenital Diaphragmatic Hernia Primary Ciliary Dyskinesia Pulmonary Hypoplasia Bronchogenic Cyst Congenital Cystic Adenomatoid Malformation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

ACD

Alveolar capillary dysplasia

BC

Bronchogenic cyst

BPS

Bronchopulmonary sequestration

CCAM

Congenital cystic adenomatoid malformation

CDH

Congenital diaphragmatic hernia

CLE

Congenital lobar emphysema

CPL

Congenital pulmonary lymphangiectasia

PCD

Primary ciliary dyskinesia

PPHN

Persistent pulmonary hypertension of the newborn

This is a preview of subscription content, log in to check access.

References

  1. Ankermann T, Oppermann HC, Engler S et al (2004) Congenital masses of the lung, cystic adenomatoid malformation versus congenital lobar emphysema: prenatal diagnosis and implications for postnatal treatment. J Ultrasound Med 23:1379–84PubMedGoogle Scholar
  2. Bishop N, Stankiewicz P, Steinhorn R (2011) Alveolar capillary dysplasia. Am J Respir Crit Care Med 184:172–179CrossRefPubMedPubMedCentralGoogle Scholar
  3. Biyyam R (2010) Congenital lung abnormalities: embryologic features, prenatal diagnosis, and postnatal radiologic-pathologic correlation. Radiographics 30:1721–1738CrossRefPubMedGoogle Scholar
  4. Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E (1994) Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr 124:125–128CrossRefPubMedGoogle Scholar
  5. Bouchard S, DiLorenzo M et al (2000) Pulmonary lymphangiectasia revisited. J Pediatr Surg 35:796–800CrossRefPubMedGoogle Scholar
  6. Bullard JE, Wert SE, Nogee LM (2006) ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol 30:327–334CrossRefPubMedGoogle Scholar
  7. Bush A (2001) Congenital lung disease. A plea for clear thinking and clear nomenclature. Pediatr Pulmonol 32:328–337CrossRefPubMedGoogle Scholar
  8. Cassidy J, Smith J, Goldman A, Haynes S, Smith E, Wright C, Haworth S, Davis P, Firmin R, Kasem K et al (2002) The incidence and characteristics of neonatal irreversible lung dysplasia. J Pediatr 141:426–428CrossRefPubMedGoogle Scholar
  9. Chowdhury M et al (2015) Imaging of congenital lung malformations. Semin Pediatr Surg 24(4):168–175CrossRefPubMedGoogle Scholar
  10. Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C et al (2008) Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 63:366–373CrossRefPubMedGoogle Scholar
  11. Ferkol T, Leigh M (2006) Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol 30(6):335–340CrossRefPubMedGoogle Scholar
  12. Fitzgerald DA (2007) Congenital cyst adenomatoid malformations: resect some and observe all? Paediatr Respir Rev 8:67–76CrossRefPubMedGoogle Scholar
  13. Flidel-Rimon O, Shinwell ES (2005) Respiratory distress in the term and near-term infant. NeoRevew 6:289–297CrossRefGoogle Scholar
  14. Fliman P, deRegnier R, Kinsella J, Reynolds M, Rankin L, Steinhorn RH (2006) Neonatal extracorporeal life support: impact of new therapies on survival. J Pediatr 148:595–599CrossRefPubMedGoogle Scholar
  15. Glasser SW, Senft AP, Maxfield MD, Ruetschilling TL, Baatz JE et al (2013) Genetic replacement of surfactant protein-C reduces respiratory syncytial virus induced lung injury. Respir Res 14:19CrossRefPubMedPubMedCentralGoogle Scholar
  16. Gower WA, Wert SE, Nogee LM (2008) Inherited surfactant disorders. NeoReviews 9:e458–e467CrossRefGoogle Scholar
  17. Gudjonsson U, Brown JW (2006) Scimitar syndrome. Semin Thorac Cardiovasc Surg 9:56–62CrossRefGoogle Scholar
  18. Hossain T, Kappelman MD, Perez-Atayde AR, Young GJ, Huttner KM, Christou H (2003) Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist. J Perinatol 23(8):684–687CrossRefPubMedGoogle Scholar
  19. Jain K, Padleya SPG et al (2007) Primary ciliary dyskinesia. Clin Radiol 62:986–993CrossRefPubMedGoogle Scholar
  20. Kartagener M, Horlacher A (1936) Situs viscerum inversus and polyposisnasi in eineum Falle familiaerer Brouchiectasien. Beitr Klin Tub 87:331–333CrossRefGoogle Scholar
  21. Kinugasa H, Horigome H, Sugiura M, Saito T, Iijima T, Matsui A (2002) Intravenous prostacyclin combined with inhaled nitric oxide therapy for an infant with alveolar capillary dysplasia. Pediatr Int 44:525–527CrossRefPubMedGoogle Scholar
  22. Kuehni CE, Frischer T, Strippoli MP et al (2010) ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 36(6):1248–1258CrossRefPubMedGoogle Scholar
  23. Langston C (2003) New concepts in the pathology of congenital lung malformations. Semin Pediatr Surg 12:17–37CrossRefPubMedGoogle Scholar
  24. Liechty KW, Flake AW (2008) Pulmonary vascular malformations. Semin Pediatr Surg 17:9–16CrossRefPubMedGoogle Scholar
  25. Lobo J, Zariwala M, Noone P (2015) Primary ciliary dyskinesia. Semin Respir Crit Care Med 36:169–179CrossRefPubMedGoogle Scholar
  26. Mark EJ (1986) Mesenchimal cystic hamartoma of the lung. N Engl J Med 315:1255–1259CrossRefPubMedGoogle Scholar
  27. McManus IC, Mitchison HM, Chung EM, Stubbings GF, Martin N (2003) Primary ciliary dyskinesia (Siewert’s/Kartagener’s syndrome): respiratory symptoms and psycho-social impact. BMC Pulm Med 3:4CrossRefPubMedGoogle Scholar
  28. Melly L, Sebire NJ et al (2008) Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. Histopathology 53:450–457CrossRefPubMedGoogle Scholar
  29. Mendeloff E (2004) Sequestrations, congenital cystic adenomatoid malformations, and congenital lobar emphysema. Semin Thorac Cardiovasc Surg 16:209–214CrossRefPubMedGoogle Scholar
  30. Mullowney T et al (2014) Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics 134:1160–1166CrossRefPubMedPubMedCentralGoogle Scholar
  31. Narendra Kumar A (2008) Perinatal management of common neonatal thoracic lesions. Indian J Pediatr 75(9):931–937CrossRefPubMedGoogle Scholar
  32. Nicolai T (2009) Management of the upper airway and congenital cystic lung diseases in neonates. Semin Fetal Neonatal Med 14:56–60CrossRefPubMedGoogle Scholar
  33. Nogee LM (2004) Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol 66:601–623CrossRefPubMedGoogle Scholar
  34. Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA (2000) Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 161:973–981CrossRefPubMedGoogle Scholar
  35. Noone PG, Leigh MW, Sannuti A et al (2004) Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 169(4):459–467CrossRefPubMedGoogle Scholar
  36. Olutoye OO, Coleman BG, Hubbard AM et al (2000) Prenatal diagnosis and management of congenital lobar emphysema. J Pediatr Surg 35:792–5CrossRefPubMedGoogle Scholar
  37. Panicek DM, Heitzman ER (1987) The continuum of pulmonary developmental anomalies. Radiographics 7:747–772CrossRefPubMedGoogle Scholar
  38. Pariente G, Aviram M, Landau D et al (2009) Prenatal diagnosis of congenital lobar emphysema: case report and review of the literature. J Ultrasound Med 28:1081–4PubMedGoogle Scholar
  39. Pinar H (2004) Postmortem findings in term neonates. Semin Neonatol 9:289–302CrossRefPubMedGoogle Scholar
  40. Sfakianaki A, Copel JA (2012) Congenital cystic lesione of the lung: congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Rev Obstet Gynecol 5(2):85–93PubMedPubMedCentralGoogle Scholar
  41. Shanti CM, Klein MD (2008) Cystic lung disease. Semin Pediatr Surg 17:2–8CrossRefPubMedGoogle Scholar
  42. Shapiro A et al (2016) Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: pcd foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 51:115–132CrossRefPubMedGoogle Scholar
  43. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M (2004) ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 350:1296–1303CrossRefPubMedGoogle Scholar
  44. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK et al (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780–791CrossRefPubMedPubMedCentralGoogle Scholar
  45. Wert SE, Whitsett JA, Nogee LM (2009) Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 12:253–274CrossRefPubMedPubMedCentralGoogle Scholar
  46. Whitsett JA, Wert SE, Weaver TE (2010) Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med 61:105–119CrossRefPubMedPubMedCentralGoogle Scholar
  47. Whitsett JA et al (2015) Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol 10:371–393CrossRefPubMedPubMedCentralGoogle Scholar

Authors and Affiliations

  1. 1.Neonatologia e Terapia Intensiva NeonataleFondazione MBBM, ASST-Ospedale San Gerardo-MonzaMonzaItaly

Personalised recommendations

Cite entry