Primary ciliary dyskinesia pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Physiology=== | ===Physiology=== | ||
[[cilia]] are responsible for normal clearance of the respiratory system by | [[cilia]] are responsible for normal clearance of the respiratory system by organised back and forth motion. It also helps in the left-right axis during embryonal development. | ||
[[Pseudostratified ciliated columnar epithelium|Pseudostratified]] columnar epithelium lines the large airways and contiguous structures, including the [[Paranasal sinuses]], middle ears, and posterior nose. Additionally, brain and fallopian tubes are also lined with ciliated columnar epithelium. In addition, the spermatozoa flagella have a core structure that is similar to cilia. | [[Pseudostratified ciliated columnar epithelium|Pseudostratified]] columnar epithelium lines the large airways and contiguous structures, including the [[Paranasal sinuses]], middle ears, and posterior nose. Additionally, [[brain]] and [[fallopian tubes]] are also lined with ciliated [[columnar epithelium]]. In addition, the [[spermatozoa]] flagella have a core structure that is similar to cilia. | ||
The developed ciliated cell has up to 200 cilia. Each cilium has an arrangement of longitudinal microtubules arranged as 9 doublets formed in an outer circle around a central pair. | The developed ciliated cell has up to 200 cilia. Each cilium has an arrangement of longitudinal [[microtubules]] arranged as 9 doublets formed in an outer circle around a central pair. | ||
===Pathogenesis=== | ===Pathogenesis=== | ||
Expression of the NODAL gene in the right arm of the [[cilia]] results in [[congenital abnormalities]] like [[situs inversus]] as compared to [[mutations]] in the left arm which ends in PCD without [[situs inversus]]. In the [[respiratory tract]], [[cilia]] move back and forth in a coordinated to clear mucus. This movement of mucus helps to eliminate fluid, [[bacteria]], and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, suggesting that the cilia play an important role in clearing fetal fluid from the [[lungs]]. Affected individuals develop recurrent respiratory tract infections. Decreased functioning cilia results in chronic infections like [[Bronchiectasis]], [[Otitis media with effusion]], chronic rhino sinusitis, and [[infertility]]. [1] | Expression of the NODAL gene in the right arm of the [[cilia]] results in [[congenital abnormalities]] like [[situs inversus|situs inverses]] as compared to [[mutations]] in the left arm which ends in PCD without [[situs inversus|situs inverses]]. In the [[respiratory tract]], [[cilia]] move back and forth in a coordinated to clear mucus. This movement of mucus helps to eliminate fluid, [[bacteria]], and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, suggesting that the cilia play an important role in clearing fetal fluid from the [[lungs]]. Affected individuals develop recurrent respiratory tract infections. Decreased functioning cilia results in chronic infections like [[Bronchiectasis]], [[Otitis media with effusion]], chronic rhino sinusitis, and [[infertility]]. [1] | ||
==Genetics== | ==Genetics== | ||
Revision as of 15:18, 2 September 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]
Overview
Expression of the NODAL gene in the right arm of the cilia results in congenital abnormalities like situs inversus as compared to mutations in the left arm which ends in PCD without situs inversus. In the respiratory tract, cilia move back and forth in a coordinated to clear mucus. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, suggesting that the cilia play an important role in clearing fetal fluid from the lungs. Affected individuals develop recurrent respiratory tract infections. Decreased functioning cilia results in chronic infections like Bronchiectasis, Otitis media with effusion, chronic rhino sinusitis, and infertility. [1]
Pathophysiology
Physiology
cilia are responsible for normal clearance of the respiratory system by organised back and forth motion. It also helps in the left-right axis during embryonal development. Pseudostratified columnar epithelium lines the large airways and contiguous structures, including the Paranasal sinuses, middle ears, and posterior nose. Additionally, brain and fallopian tubes are also lined with ciliated columnar epithelium. In addition, the spermatozoa flagella have a core structure that is similar to cilia. The developed ciliated cell has up to 200 cilia. Each cilium has an arrangement of longitudinal microtubules arranged as 9 doublets formed in an outer circle around a central pair.
Pathogenesis
Expression of the NODAL gene in the right arm of the cilia results in congenital abnormalities like situs inverses as compared to mutations in the left arm which ends in PCD without situs inverses. In the respiratory tract, cilia move back and forth in a coordinated to clear mucus. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, suggesting that the cilia play an important role in clearing fetal fluid from the lungs. Affected individuals develop recurrent respiratory tract infections. Decreased functioning cilia results in chronic infections like Bronchiectasis, Otitis media with effusion, chronic rhino sinusitis, and infertility. [1]
Genetics
[Disease name] is transmitted in [mode of genetic transmission] pattern.
OR
Genes involved in the pathogenesis of [disease name] include:
- [Gene1]
- [Gene2]
- [Gene3]
OR
The development of [disease name] is the result of multiple genetic mutations such as:
- [Mutation 1]
- [Mutation 2]
- [Mutation 3]
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
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].