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Abnormal central complex is a marker of severity in the presence of partial ciliary defect
A Tamalet1, A Clement, F Roudot-Thoraval
1Pediatric Pulmonology and ENT Departments, Armand Trousseau Hospital (AP-HP), Paris, France.
Insights
Partial ciliary defects in children can cause chronic respiratory issues. Central complex abnormalities indicate severity, while peripheral microtubule defects often have better outcomes, emphasizing the need for ultrastructural analysis in specific cases.
Area of Science:
- Pediatric Pulmonology
- Cell Biology
- Genetics
Background:
- Primary ciliary dyskinesia (PCD) is linked to ciliary ultrastructural defects, particularly absent dynein arms (DA), causing chronic infections.
- The impact of partial ciliary defects, especially central complex (CC) abnormalities, on respiratory health is less understood.
Purpose of the Study:
- To investigate the relationship between partial ciliary defects, motility, and clinical outcomes in children.
- To evaluate the prognosis of pediatric patients with various partial ciliary ultrastructural defects.
Main Methods:
- Analyzed 43 children with chronic bronchitis and partial ciliary defects (15-90%) via bronchial biopsies.
- Classified patients into central complex (CC), peripheral microtubule (PMT), and dynein arm (DA) defect groups.
- Assessed clinical presentation, pulmonary function, and ciliary motility.
Main Results:
- PMT group showed less severe disease and normal ciliary motility compared to CC and DA groups.
- CC group had higher infection rates, bronchiectasis, and congenital indicators.
- Partial DA absence correlated with a good prognosis; all groups showed good functional outcomes with treatment.
Conclusions:
- Ultrastructural analysis is crucial for children with chronic respiratory infections, situs inversus, or bronchiectasis, irrespective of ciliary motility.
- Central complex abnormalities are a marker of disease severity, necessitating intensive management and monitoring.
Background:
Ciliary ultrastructural defects with total lack of dynein arms (DA) cause abnormal mucociliary function leading to the chronic infections observed in primary ciliary dyskinesia. The role of partial ciliary ultrastructural defects, especially those involving the central complex, and their relationship with respiratory symptoms have been less thoroughly investigated.
Objective:
In a pediatric population with partial ciliary defects, we determined the relationship(s) between ultrastructural findings, ciliary motility, and clinical and functional features, and evaluated the outcome of this population.
Design:
We analyzed the clinical presentation and pulmonary function of 43 children with chronic bronchitis and partial ultrastructural defects (from 15% to 90%) of their respiratory cilia demonstrated on bronchial biopsies. The study population was divided into 3 groups according to ciliary ultrastructure: the main ultrastructural defect concerned the central complex in 23 patients (CC group), peripheral microtubules in 8 patients (PMT group), and DA in 12 patients (DA group).
Results:
The percentage of ciliary defects was lower in the PMT group than in the CC and DA groups. Patients in the PMT group had less severe disease with frequent normal ciliary motility. Patients in the CC group had initially a higher incidence of respiratory tract infections, extensive bronchiectasis frequently requiring surgery, and arguments in favor of a congenital origin (high proportion of sibling form). Partial absence of DA, although of congenital origin, was associated with a good prognosis. In all groups, follow-up showed that the functional prognosis remained good with appropriate treatment.
Conclusions:
In children with chronic respiratory infections, presence of situs inversus, sibling form, obstructive pulmonary syndrome, or bronchiectasis required ultrastructural analysis, regardless of ciliary motility. Detection of CC abnormalities is a marker of severity and required intensive therapy and close follow-up.