Clinical care of children with primary ciliary dyskinesia. 2017

Jane S Lucas, and Mikkel Christian Alanin, and Samuel Collins, and Amanda Harris, and Helle Krogh Johansen, and Kim G Nielsen, and Jean Francois Papon, and Phil Robinson, and Woolf T Walker
a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.

Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.

UI MeSH Term Description Entries
D007507 Therapeutic Irrigation The washing of a body cavity or surface by flowing water or solution for therapy or diagnosis. Douching,Lavage,Douchings,Irrigation, Therapeutic,Irrigations, Therapeutic,Lavages,Therapeutic Irrigations
D007619 Kartagener Syndrome An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. Kartagener Triad,Ciliary Dyskinesia, Primary, 1,Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus,Dextrocardia, Bronchiectasis, and Sinusitis,Kartagener's Syndrome,Kartagener's Triad,Polynesian Bronchiectasis,Siewert Syndrome,Bronchiectasis, Polynesian,Kartageners Syndrome,Kartageners Triad,Polynesian Bronchiectases,Syndrome, Kartagener,Syndrome, Kartagener's,Syndrome, Siewert
D009079 Mucociliary Clearance A non-specific host defense mechanism that removes MUCUS and other material from the LUNGS by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers. Mucociliary Transport,Clearance, Mucociliary,Clearances, Mucociliary,Mucociliary Clearances,Mucociliary Transports,Transport, Mucociliary,Transports, Mucociliary
D010031 Otitis Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS. Ear Infection,Ear Inflammation,Ear Infections,Ear Inflammations,Infection, Ear,Infections, Ear,Inflammation, Ear,Inflammations, Ear,Otitides
D012138 Respiratory Therapy Care of patients with deficiencies and abnormalities associated with the cardiopulmonary system. It includes the therapeutic use of medical gases and their administrative apparatus, environmental control systems, humidification, aerosols, ventilatory support, bronchopulmonary drainage and exercise, respiratory rehabilitation, assistance with cardiopulmonary resuscitation, and maintenance of natural, artificial, and mechanical airways. Inhalation Therapy,Therapy, Inhalation,Therapy, Respiratory,Inhalation Therapies,Respiratory Therapies,Therapies, Inhalation,Therapies, Respiratory
D012141 Respiratory Tract Infections Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. Respiratory System Infections,Upper Respiratory Tract Infection,Upper Respiratory Tract Infections,Infections, Respiratory,Infections, Respiratory Tract,Infections, Upper Respiratory,Infections, Upper Respiratory Tract,Respiratory Infections,Upper Respiratory Infections,Infection, Respiratory System,Infection, Respiratory Tract,Respiratory Infection, Upper,Respiratory System Infection,Respiratory Tract Infection
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003266 Continuity of Patient Care Health care provided on a continuing basis from the initial contact, following the patient through all phases of medical care. Continuum of Care,Continuity of Care,Care Continuity,Care Continuity, Patient,Care Continuum,Patient Care Continuity
D005100 Expectorants Agents that increase mucous excretion. Mucolytic agents, that is drugs that liquefy mucous secretions, are also included here. Expectorant,Mucolytic,Mucolytic Agent,Mucolytic Agents,Mucolytics,Agent, Mucolytic,Agents, Mucolytic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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