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.
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.
Authors: C E Kuehni; T Frischer; M-P F Strippoli; E Maurer; A Bush; K G Nielsen; A Escribano; J S A Lucas; P Yiallouros; H Omran; E Eber; C O'Callaghan; D Snijders; A Barbato Journal: Eur Respir J Date: 2010-06-07 Impact factor: 16.671
Authors: F Verra; E Escudier; J Bignon; M C Pinchon; M Boucherat; J F Bernaudin; H de Cremoux Journal: Eur Respir J Date: 1991-09 Impact factor: 16.671
Authors: Stephanie D Davis; Thomas W Ferkol; Margaret Rosenfeld; Hye-Seung Lee; Sharon D Dell; Scott D Sagel; Carlos Milla; Maimoona A Zariwala; Jessica E Pittman; Adam J Shapiro; Johnny L Carson; Jeffrey P Krischer; Milan J Hazucha; Matthew L Cooper; Michael R Knowles; Margaret W Leigh Journal: Am J Respir Crit Care Med Date: 2015-02-01 Impact factor: 21.405
Authors: Marco Maglione; Andrew Bush; Kim G Nielsen; Claire Hogg; Silvia Montella; June K Marthin; Angela Di Giorgio; Francesca Santamaria Journal: Pediatr Pulmonol Date: 2014-01-13