Primary ciliary dyskinesia pathophysiology
|
Primary ciliary dyskinesia Microchapters |
|
Differentiating Primary ciliary dyskinesia from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Primary ciliary dyskinesia pathophysiology On the Web |
|
American Roentgen Ray Society Images of Primary ciliary dyskinesia pathophysiology |
|
Risk calculators and risk factors for Primary ciliary dyskinesia pathophysiology |
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.[2]
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
Primary ciliary dyskinesia has an autosomal recessive inheritance. Mutations in DNAI1 and DNAH5 result in Primary Ciliary Dyskinesia.
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].