Management of a child with primary ciliary dyskinesia

Oxford Medical Case Reports
Aneeta Kumar, Woolf T Walker

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive condition characterized by dysmotile cilia. Typically associated with defects in the cilia structure, it results in impaired mucociliary clearance of pathogens from the lungs and sinuses. Consequently, patients suffer from recurrent sinopulmonary and middle ear infections. We report on the management of a 5-year-old boy who presented with increased work of breathing, fever and crepitations, with an existing diagnosis of PCD with situs inversus totalis. Chest X-ray imaging revealed right lower lobe collapse. He was managed with intensive physiotherapy, nebulized mucolytic agents and antibiotics. However, due to a poor response, he underwent flexible bronchoscopy, which allowed removal of a mucus plug and subsequent re-expansion of his collapsed lobe. Although there is limited evidence for the management of PCD, here we discuss the accepted strategies for its management, based on expert opinion and guidelines for other suppurative lung diseases.

References

Nov 1, 1995·Pediatric Pulmonology·M DesaiD A Spencer
Feb 19, 1999·Pediatric Pulmonology·M ten BergeJ C de Jongste
Nov 17, 2010·Archives of Otolaryngology--head & Neck Surgery·Virginie Prulière-EscabasseGilles Roger
Sep 20, 2011·Proceedings of the American Thoracic Society·Scott D SagelSharon D Dell
Apr 29, 2014·Archives of Disease in Childhood·Jane S LucasUNKNOWN National PCD Service, UK
Sep 30, 2015·Pediatric Pulmonology·Adam J ShapiroUNKNOWN Genetic Disorders of Mucociliary Clearance Consortium
Jan 31, 2016·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Marco ZampoliBrenda Morrow
Jul 27, 2017·Expert Review of Respiratory Medicine·Jane S LucasWoolf T Walker
Nov 11, 2017·The European Respiratory Journal·Gert Jan VanakenSophie Christin-Maitre

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Methods Mentioned

BETA
transmission electron microscopy
X-ray

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