Update of respiratory tract disease in children with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.

[1]  M. Knowles,et al.  The challenges of diagnosing primary ciliary dyskinesia. , 2011, Proceedings of the American Thoracic Society.

[2]  M. Rosenfeld,et al.  Characteristics Of Primary Ciliary Dyskinesia In Children Under 5 Years Of Age , 2011, ATS 2011.

[3]  M. Rosenfeld,et al.  Multicenter evaluation of infant lung function tests as cystic fibrosis clinical trial endpoints. , 2010, American journal of respiratory and critical care medicine.

[4]  Wen Gao,et al.  Surgical treatment of bronchiectasis: a retrospective analysis of 790 patients. , 2010, The Annals of thoracic surgery.

[5]  L. Skovgaard,et al.  Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. , 2010, American journal of respiratory and critical care medicine.

[6]  S. Willsie Inhaled Aztreonam Lysine For Chronic Airway Pseudomonas aeruginosa In Cystic Fibrosis , 2010 .

[7]  H Omran,et al.  Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children , 2009, European Respiratory Journal.

[8]  L. Morgan,et al.  Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. , 2009, International journal of pediatric otorhinolaryngology.

[9]  M. Demedts,et al.  Primary ciliary dyskinesia: Evolution of pulmonary function , 1998, European Journal of Pediatrics.

[10]  H. Tiddens,et al.  Structural and functional lung disease in primary ciliary dyskinesia. , 2008, Chest.

[11]  M. Leigh,et al.  Early lung disease in young children with primary ciliary dyskinesia , 2008, Pediatric pulmonology.

[12]  A. Boner,et al.  Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. , 2008, Respiratory medicine.

[13]  Claude Nahmias,et al.  Radiation Risk to Children From Computed Tomography , 2008, Pediatrics.

[14]  Karen A Robinson,et al.  Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. , 2007, American journal of respiratory and critical care medicine.

[15]  A. Bush,et al.  Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. , 2007, Clinical radiology.

[16]  C. Goss,et al.  Patient-reported outcomes in cystic fibrosis. , 2007, Proceedings of the American Thoracic Society.

[17]  Janet Stocks,et al.  An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. , 2007, American journal of respiratory and critical care medicine.

[18]  H. Omran,et al.  Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia , 2007, Circulation.

[19]  A. Nicholson,et al.  Airway remodelling in children with cystic fibrosis , 2007, Thorax.

[20]  P. Molina,et al.  High-resolution CT of patients with primary ciliary dyskinesia. , 2007, AJR. American journal of roentgenology.

[21]  S. Randell,et al.  Cystic Fibrosis and Other Respiratory Diseases of Impaired Mucus Clearance , 2007, Toxicologic pathology.

[22]  F. Baroody Mucociliary transport in chronic rhinosinusitis. , 2007, Clinical allergy and immunology.

[23]  J. Stocks,et al.  11 – Pulmonary Function Tests in Infants and Preschool Children , 2006 .

[24]  T. Ferkol,et al.  Primary ciliary dyskinesia and newborn respiratory distress. , 2006, Seminars in perinatology.

[25]  W. Hop,et al.  Progression of lung disease on computed tomography and pulmonary function tests in children and adults with cystic fibrosis , 2005, Thorax.

[26]  B. Rubin,et al.  Mucus properties in children with primary ciliary dyskinesia: comparison with cystic fibrosis. , 2006, Chest.

[27]  A. Quittner,et al.  Development and validation of The Cystic Fibrosis Questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis. , 2005, Chest.

[28]  A. Majithia,et al.  Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study. , 2005, International journal of pediatric otorhinolaryngology.

[29]  A. Bush,et al.  Correlation between cough frequency and airway inflammation in children with primary ciliary dyskinesia , 2005, Pediatric pulmonology.

[30]  M. Şenocak,et al.  Surgical treatment of bronchiectasis in children. , 2004, Journal of pediatric surgery.

[31]  M. Hazucha,et al.  Primary ciliary dyskinesia: diagnostic and phenotypic features. , 2004, American journal of respiratory and critical care medicine.

[32]  A. Quittner,et al.  Validation of a disease-specific measure of health-related quality of life for children with cystic fibrosis. , 2003, Journal of pediatric psychology.

[33]  A. Perez-Atayde,et al.  Primary Ciliary Dyskinesia as a Cause of Neonatal Respiratory Distress: Implications for the Neonatologist , 2003, Journal of Perinatology.

[34]  A. Gözübüyük,et al.  Surgical management of bronchiectasis: analysis and short-term results in 238 patients. , 2003, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

[35]  P. Nafstad,et al.  Feasibility of measuring lung function in preschool children , 2002, Thorax.

[36]  A. Bush,et al.  Primary ciliary dyskinesia: age at diagnosis and symptom history , 2002, Acta paediatrica.

[37]  M. Aoe,et al.  Living-donor lobar lung transplantation for primary ciliary dyskinesia. , 2001, The Annals of thoracic surgery.

[38]  W T Ambrosius,et al.  Spirometric pulmonary function in healthy preschool children. , 2001, American journal of respiratory and critical care medicine.

[39]  Ronald M. Davis,et al.  Advances in managing chronic disease , 2000, BMJ : British Medical Journal.

[40]  R. Castile,et al.  Lungs in infants and young children: improved thin-section CT with a noninvasive controlled-ventilation technique--initial experience. , 1999, Radiology.

[41]  D. Lomas,et al.  Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study , 1998 .

[42]  H. Bisgaard,et al.  Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. , 1997, The European respiratory journal.

[43]  P J Hadfield,et al.  Treatment of otitis media with effusion in children with primary ciliary dyskinesia. , 1997, Clinical otolaryngology and allied sciences.

[44]  J. V. D. van den Bosch,et al.  Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia? , 1996, Chest.

[45]  C. Yoon,et al.  Primary ciliary dyskinesia: ultrastructural defects and clinical features. , 1995, Rhinology.

[46]  M. Hodson,et al.  Hospital care for adults with cystic fibrosis: an overview and comparison between special cystic fibrosis clinics and general clinics using a patient questionnaire. , 1994, Thorax.

[47]  David S. Parsons,et al.  A treatment for primary ciliary dyskinesia: Efficacy of functional endoscopic sinus surgery , 1993, The Laryngoscope.

[48]  Jow Kendig's Disorders of the Respiratory Tract in Children , 1991 .