Primary ciliary dyskinesia pathophysiology: Difference between revisions
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===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] | |||
==Genetics== | ==Genetics== | ||
Revision as of 14:52, 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
The normal physiology of [name of process] can be understood as follows:
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]
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].