Abstract
Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable. To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope. Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects). The clinical data and the investigations made were registered at diagnosis and during the follow-up. Patients with a definite PCD (G1, n=7) were diagnosed earlier compared to those with a presumed PCD (G2, n=13) (2.5 vs. 9.3 years on average). At diagnosis, bronchiectasis was more frequent in G1 (3/7 vs. 4/13). The inner DA loss was constant in G1 and predominant in G2. The treatment adhesion was more often irregular in G2 (2/7 vs. 8/13). During a mean follow-up of 11 years, G1 showed less severe outcome (clubbing (0 vs. 3), bronchiectasis (3 vs. 11; more expanded in G2), proximal and distal airway obstruction (0/3 vs. 5/7), lobectomy (0 vs. 2), and death (0 vs. 2)). Precocious diagnosis and regular treatment may enhance the PCD prognosis.
Highlights
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal-recessive disease
Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD
The patients regarded as affected with PCD because of a compatible clinical and radiological phenotype without any ciliary ultra-structure abnormalities or without an electron microscopic cilia study were not included in this study
Summary
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal-recessive disease. The PCD diagnosis requires an expensive infrastructure and an experienced team of clinicians and scientists. In. Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Objective: To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope. Methods: Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects). Conclusion: Precocious diagnosis and regular treatment may enhance the PCD prognosis. Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy.
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