Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy.

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.