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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Pulmonary sequestration is a rare
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.
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.
- 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.
- 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.
- Khan AN. Pulmonary Sequestration Imaging. Medscape Reference. November 24, 2015; https://emedicine.medscape.com/article/412554-overview.
- Schnapf BM. Pediatric Pulmonary Sequestration. Medscape Reference. May 1, 2014; https://emedicine.medscape.com/article/1005815-overview.
- 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.
- 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.
- 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.
- Mason. Murray & Nadel's Textbook of Respiratory Medicine, 4th ed.. Saunders; 2005;
- 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.
- 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.