Pneumothorax pathophysiology: Difference between revisions

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*Folliculin is found in the connective tissue cells that allow the lungs to contract and expand while breathing.  
*Folliculin is found in the connective tissue cells that allow the lungs to contract and expand while breathing.  
*It plays a role in repairing the lung tissue after damage.
*It plays a role in repairing the lung tissue after damage.
*Nonsense mutation in the folliculin gene results in isolated familial sponataneous primary pneumothorax.
*Nonsense mutation in the folliculin gene results in isolated familial sponataneous primary pneumothorax.<ref name="pmid15805188">{{cite journal| author=Graham RB, Nolasco M, Peterlin B, Garcia CK| title=Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. | journal=Am J Respir Crit Care Med | year= 2005 | volume= 172 | issue= 1 | pages= 39-44 | pmid=15805188 | doi=10.1164/rccm.200501-143OC | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15805188  }} </ref><ref name="pmid16825879">{{cite journal| author=Chiu HT, Garcia CK| title=Familial spontaneous pneumothorax. | journal=Curr Opin Pulm Med | year= 2006 | volume= 12 | issue= 4 | pages= 268-72 | pmid=16825879 | doi=10.1097/01.mcp.0000230630.73139.f0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16825879  }} </ref>
*Altered folliculin protein can trigger the inflammatory process within the lung tissue that can alter and damage the tissue, resulting in blebs formation.
*Altered folliculin protein can trigger the inflammatory process within the lung tissue that can alter and damage the tissue, resulting in blebs formation.



Revision as of 20:00, 14 February 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Feham Tariq, MD [2]

Overview

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR


[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Pathophysiology

Pathogenesis

  • The pathophysiology of pneumothorax depends on the underlying disease causing it.

Genetics

Genetic assocaiation

The genetic association of primary sponatneous pneumothorax is as follows:[1][2][3][4][5][6]

  • Primary spontaneous pneumothorax can result as a mutation in the FLCN(folliculin) gene.
  • This gene codes for a protein called folliculin.
  • It is produced by the cells lining the alveoli of the lung.
  • Folliculin is found in the connective tissue cells that allow the lungs to contract and expand while breathing.
  • It plays a role in repairing the lung tissue after damage.
  • Nonsense mutation in the folliculin gene results in isolated familial sponataneous primary pneumothorax.[7][1]
  • Altered folliculin protein can trigger the inflammatory process within the lung tissue that can alter and damage the tissue, resulting in blebs formation.

Associated Conditions

Gross Pathology

  • On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

  • On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].


References

  1. 1.0 1.1 Chiu HT, Garcia CK (2006). "Familial spontaneous pneumothorax". Curr Opin Pulm Med. 12 (4): 268–72. doi:10.1097/01.mcp.0000230630.73139.f0. PMID 16825879.
  2. Bintcliffe O, Maskell N (2014). "Spontaneous pneumothorax". BMJ. 348: g2928. doi:10.1136/bmj.g2928. PMID 24812003.
  3. Wakai A (2008). "Spontaneous pneumothorax". BMJ Clin Evid. 2008. PMC 2907964. PMID 19450320.
  4. Wakai AP (2011). "Spontaneous pneumothorax". BMJ Clin Evid. 2011. PMC 3275306. PMID 21477390.
  5. Andrivet P, Djedaini K, Teboul JL, Brochard L, Dreyfuss D (1995). "Spontaneous pneumothorax. Comparison of thoracic drainage vs immediate or delayed needle aspiration". Chest. 108 (2): 335–9. PMID 7634863.
  6. Lippert HL, Lund O, Blegvad S, Larsen HV (1991). "Independent risk factors for cumulative recurrence rate after first spontaneous pneumothorax". Eur Respir J. 4 (3): 324–31. PMID 1864347.
  7. Graham RB, Nolasco M, Peterlin B, Garcia CK (2005). "Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults". Am J Respir Crit Care Med. 172 (1): 39–44. doi:10.1164/rccm.200501-143OC. PMID 15805188.

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