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Published:
Mar 7, 2017DOI:
10.4314/ahs.v16i4.11Keywords:
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Main Article Content
Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy
Abstract
Background: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable.
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). The clinical data and the investigations made were registered at diagnosis and during the follow-up.
Results: 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)).
Conclusion: Precocious diagnosis and regular treatment may enhance the PCD prognosis.
Keywords: Primary ciliary dyskinesia, cilia, child, recurrent pneumonia, bronchiectasis
