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PNEUMON Online First

PNEUMON Online First manuscripts have recently been accepted for publication in the PNEUMON Quarterly Medical Journal. They are published here in their accepted form, prior to copyediting and typesetting. After these production processes are complete and the authors have approved the resulting proofs, articles move to the latest issue of the PNEUMON online.

Pneumon 2020, 33(4):-0
Kartagener’s syndrome: A multisystem disease in need of a “multidisciplinary approach” concept
Authors Information

12nd Pulmonary Medicine Department, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Greece, 2Western Attica General Hospital
“Agia Barbara”, Athens, Greece, 3251 Air Force General Hospital, Athens, Greece, 4Allergology
and Pulmonology Unit, 3rd Department of Pediatrics, 52nd Department of Otorhinolaryngology, 6Assisted Reproduction Unit, Third Department of Obstetrics and Gynecology, 7B’ Urology Clinic, 82nd Department of Radiology, General University Hospital
"Attikon", Medical School, National and Kapodistrian University of Athens, Greece,
9Pediatric Clinic, "P. & A. Kyriakou" Children's Hospital, National and Kapodistrian University
of Athens, Faculty of Nursing, Athens, Greece

*These authors contributed equally to this work

Abstract

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder, with considerable heterogenicity, characterized by a spectrum of corresponding defects in ciliary ultrastructure and/or ciliary function related to genetic mutations effecting motile cilia. The impaired ciliary function impedes mucociliary clearance, which predisposes the patient to upper and lower respiratory tract infections, chronic sinopulmonary infection, development of bronchiectasis and loss of lung function.Recurrent ear infections might lead to hearing loss. Many males with primary ciliary dyskinesia have immobile spermatozoa or dysfunction of cilia in the epididymal duct, leading to infertility.During embryogenesis, nodal cilia, which are motile cilia, determine the correct lateralization of the organs. Dysfunction of these cilia leads to random lateralization and thus situs inversus in patients with primary ciliary dyskinesia. Kartagener’s syndrome describes the classic triad of situs inversus, bronchiectasis and chronic sinusitis due to a congenital reduction or absence of ciliary function. The severity of the disease in adults is highly variable. Herein we present 3 members of a family with PCD developing almost the entire spectrum of manifestations and requiring not only extensive pediatric and adult respiratory medicine management but also a specialized multidisciplinary approach.

Pneumon 2020, 33(4):-0.