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. | ||
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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
- ↑ 1.0 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.
- ↑ Bintcliffe O, Maskell N (2014). "Spontaneous pneumothorax". BMJ. 348: g2928. doi:10.1136/bmj.g2928. PMID 24812003.
- ↑ Wakai A (2008). "Spontaneous pneumothorax". BMJ Clin Evid. 2008. PMC 2907964. PMID 19450320.
- ↑ Wakai AP (2011). "Spontaneous pneumothorax". BMJ Clin Evid. 2011. PMC 3275306. PMID 21477390.
- ↑ 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.
- ↑ 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.
- ↑ 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.