I Honoré1, P-R Burgel2. 1. Department of respiratory medicine, Cochin hospital, Assistance publique-Hôpitaux de Paris, 75014 Paris, France. 2. Department of respiratory medicine, Cochin hospital, Assistance publique-Hôpitaux de Paris, 75014 Paris, France; Paris Descartes university, Sorbonne Paris Cité, 75005 Paris, France. Electronic address: pierre-regis.burgel@cch.aphp.fr.
Abstract
INTRODUCTION: Primary ciliary dyskinesia is an autosomal recessive genetic disorder leading to structural and/or functional abnormalities of motor cilia. Impaired mucociliary clearance is responsible for the development of a multi-organ disease, which particularly affects the upper and lower airways. STATE OF THE ART: In adults, primary ciliary dyskinesia is mainly characterized by bronchiectasis and chronic ear and sinus disorders. Situs inversus is found in half of patients and fertility disorders are commonly associated. Diagnosis is based on specialized tests: reduced level of nasal nitric oxide concentrations is suggestive of primary ciliary dyskinesia, but only a nasal or bronchial biopsy/brushing with analysis of beat pattern by videomicroscopy and/or analysis of cilia morphology by electronic microscopy can confirm the diagnosis. However, the diagnosis is difficult to achieve due to the limited access to these specialized tests and to difficulties in interpreting them. Genetic tests are under development and may provide new diagnostic tools. Treatment is symptomatic, based on airway clearance techniques (e.g., physiotherapy) and systemic and/or inhaled antibiotics. Prognosis is related to the severity of the respiratory impairment, which can be moderate or severe. PERSPECTIVES AND CONCLUSIONS: Diagnosis and management of primary ciliary dyskinesia remain poorly defined and should be supported by specialized centers to standardize the diagnosis, improve the treatment and promote research.
INTRODUCTION: Primary ciliary dyskinesia is an autosomal recessive genetic disorder leading to structural and/or functional abnormalities of motor cilia. Impaired mucociliary clearance is responsible for the development of a multi-organ disease, which particularly affects the upper and lower airways. STATE OF THE ART: In adults, primary ciliary dyskinesia is mainly characterized by bronchiectasis and chronic ear and sinus disorders. Situs inversus is found in half of patients and fertility disorders are commonly associated. Diagnosis is based on specialized tests: reduced level of nasal nitric oxide concentrations is suggestive of primary ciliary dyskinesia, but only a nasal or bronchial biopsy/brushing with analysis of beat pattern by videomicroscopy and/or analysis of cilia morphology by electronic microscopy can confirm the diagnosis. However, the diagnosis is difficult to achieve due to the limited access to these specialized tests and to difficulties in interpreting them. Genetic tests are under development and may provide new diagnostic tools. Treatment is symptomatic, based on airway clearance techniques (e.g., physiotherapy) and systemic and/or inhaled antibiotics. Prognosis is related to the severity of the respiratory impairment, which can be moderate or severe. PERSPECTIVES AND CONCLUSIONS: Diagnosis and management of primary ciliary dyskinesia remain poorly defined and should be supported by specialized centers to standardize the diagnosis, improve the treatment and promote research.
Authors: Panayiotis Kouis; Myrofora Goutaki; Florian S Halbeisen; Ifigeneia Gioti; Nicos Middleton; Israel Amirav; Angelo Barbato; Laura Behan; Mieke Boon; Nagehan Emiralioglu; Eric G Haarman; Bulent Karadag; Cordula Koerner-Rettberg; Romain Lazor; Michael R Loebinger; Bernard Maitre; Henryk Mazurek; Lucy Morgan; Kim Gjerum Nielsen; Heymut Omran; Ugur Özçelik; Mareike Price; Andrzej Pogorzelski; Deborah Snijders; Guillaume Thouvenin; Claudius Werner; Zorica Zivkovic; Claudia E Kuehni; Panayiotis K Yiallouros Journal: Respir Res Date: 2019-09-18