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Disease Profile

Pulmonary sequestration

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q33.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Lung Diseases

Summary

Pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation.[1][2][3][4] Pulmonary sequestrations may be defined as intralobular or extralobular, depending on their location.[2][3][4] Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.[3] Treatment depends on the location and may involve surgery.[2][3]

Symptoms

Typical symptoms seen in infants with extralobular pulmonary sequestration include cough, respiratory problems, feeding difficulties, or congestive heart failure, although many infants have no symptoms.[5][2] Chronic infections are not common.[5] Extralobular pulmonary sequestration is commonly associated with other birth defects, including diaphragmatic hernia and other lung malformations such as congenital cystic adenomatoid malformation and bronchogenic cysts, pectus excavatum, pericardial problems, and duplication cysts.[5] This type of sequestration accounts for 25 percent of all sequestrations.[4]

Intralobular pulmonary sequestration is characterized by recurrent infections, hemoptysis, or pleural effusion.[3][4] A chronic or recurrent cough is common.[3] A chest radiograph may reveal a solid or fluid (cystic) lesion in the lower lobe, more often on the left side. Intralobular pulmonary sequestration is often diagnosed later than extralobular pulmonary sequestration, in childhood or adulthood.[2][3] It accounts for 75 percent of all sequestrations and affects males and females in equal numbers.[2][4] Intralobular pulmonary sequestration is not commonly associated with other congenital anomalies.[2][3]

Cause

Pulmonary sequestration appears to result from abnormal budding of the primitive foregut. The tissue in this accessory lung bud migrates with the developing lung, but does not communicate with it. It receives its blood supply from vessels that connect to the aorta or one of its side branches.[3][6] The arterial supply is derived in most cases from the thoracic aorta (75%) or the abdominal aorta (20%). In some cases (15%), two different arteries supply the blood.[6]

If the accessory lung bud develops early in embryonic development, the pulmonary sequestration occurs among the normal lung tissue, where it is encased within the pleural sac. This results in intralobular pulmonary sequestration. Venous drainage of intralobular pulmonary sequestration is usually through the pulmonary circulation. If the accessory lung bud develops later, extralobular pulmonary sequestration results. This type of pulmonary sequestration is separated from the normal lung tissue by its own visceral pleura and can occur above, within, or below the diaphragm. Venous drainage is usually through the systemic circulation.[3][6]

Treatment

Due to the risk for infection and bleeding, intralobar pulmonary sequestrations are usually removed, either by segmentectomy (removal of part of the lung) or lobectomy (removal of the full lobe). Angiography along with CT scan (with or without contrast) and MRI are generally used to visualize the origins of the blood supply before surgery is performed.[3]

Traditional treatment of extralobular pulmonary sequestration involves surgical removal via mini-thoracotomy for patients that are experiencing symptoms. Less invasive surgery techniques may include thorascopic surgery and coil embolization.[5]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Pediatric Pulmonary Sequestration
    Pulmonary Sequestration Imaging
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pulmonary sequestration. Click on the link to view a sample search on this topic.

References

  1. Pikwer A, Gyllstedt E, Lillo-Gil R, et al.. Pulmonary sequestration--a review of 8 cases treated with lobectomy.. Scand J Surg. 2006; 95(3):190-4. https://www.ncbi.nlm.nih.gov/pubmed/17066616.
  2. Khan AN. Pulmonary Sequestration Imaging. Medscape Reference. November 24, 2015; https://emedicine.medscape.com/article/412554-overview.
  3. Schnapf BM. Pediatric Pulmonary Sequestration. Medscape Reference. May 1, 2014; https://emedicine.medscape.com/article/1005815-overview.
  4. Dong J, Cai Y, Chen, et al.. A Case Report and a Short Literature Review of Pulmonary Sequestration Showing Elevated Serum Levels of Carbohydrate Antigen 19-9.. J Nippon Med Sch. 2015; 82(4):211-5. https://www.jstage.jst.go.jp/article/jnms/82/4/82_211/_pdf.
  5. Erin G. Brown, Clifford Marr, Diana Farmer. Extralobar pulmonary sequestration: The importance of intraoperative vigilance. Journal of Pediatric Surgery Case Reports. April 2013; 1(4):74-76. https://www.sciencedirect.com/science/article/pii/S2213576613000274.
  6. Mazzarella G, Iadevaia C, Guerra G, Rocca A, Corcione N, Rossi G, Amore D, Brunese L, Bianco A. Intralobar pulmonary sequestration in an adult female patient mimicking asthma: a case report.. Int J Surg. 2014; 12 Suppl 2:S73-7. https://www.ncbi.nlm.nih.gov/pubmed/25159547.
  7. Mason. Murray & Nadel's Textbook of Respiratory Medicine, 4th ed.. Saunders; 2005;
  8. Abuhamad AZ, Bass T, Katz ME, Heyl PS.. Familial recurrence of pulmonary sequestration.. Obstet Gynecol. 1996 May; 87(5 Pt. 2):843-5. https://www.ncbi.nlm.nih.gov/pubmed/8677110.
  9. Becker J, Hernandez A, Dipietro M, Coran AG. Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association.. Pediatr Surg Int. 2005 Jul; 21(7):541-6. https://www.ncbi.nlm.nih.gov/pubmed/15937657.

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