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Lower airway bronchoscopic interpretation
Published in Don Hayes, Kara D. Meister, Pediatric Bronchoscopy for Clinicians, 2023
Kimberley R. Kaspy, Sara M. Zak
Patients with complete situs inversus will have “flipped” or reversed anatomy – the typical structures of the right-sided airways will be seen on the patient's left, with typical left-sided airways on the patient's right. Patients with situs ambiguous can have left isomerism with bilobed lungs bilaterally or right isomerism with trilobed lungs bilaterally. These findings can be associated with primary ciliary dyskinesia or congenital heart disease.7,8
Rhinosinusitis
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Primary ciliary dyskinesia is often associated with situs inversus and known in this circumstance as Kartagener's syndrome. Patients often present in adolescence and may have a prior history of otitis media with effusion; they may also suffer with bronchiectasis. Ciliary dyskinesias will show delayed mucociliary clearance times and require investigation at specialist centres, of which there are three in the United Kingdom. Absent mucociliary clearance exhibited in primary ciliary dyskinesia results in recurrent bacterial infections and CRSwNP in approximately 40% of patients.
Pulmonary Immunology
Published in Lourdes R. Laraya-Cuasay, Walter T. Hughes, Interstitial Lung Diseases in Children, 2019
Hemant H. Kesarwala, Thomas J. Fischer
Abnormalities of ciliary motion result in ineffective mucociliary transport; and recurrent respiratory tract infections can follow. Congenital absence of dynein arms is seen in Kar-tagener’s syndrome with dextrocardia, bronchiectasis, and recurrent sinopulmonary infections.9 Additional primary disorders of ciliary motility have been described and have been termed primary ciliary dyskinesia.10 Secondary degeneration of cilia and subsequent abnormal function follow diverse insults such as infections and cigarette smoking.
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia
Published in Acta Oto-Laryngologica, 2022
Huiying Lyu, Zhuoyao Guo, Chao Chen, Bo Duan, Zhengmin Xu, Wenxia Chen
Primary ciliary dyskinesia (PCD) is primarily an autosomal recessive genetic disease characterized by abnormalities in ciliary structure and/or function [1]. PCD leads to impaired mucociliary clearance and a wide variety of symptoms primarily affecting the respiratory system. Clinical features include recurrent infections of the upper and lower respiratory tract, chronic rhinosinusitis (CRS), otitis media with effusion, bronchiectasis, dextrocardia/situs inversus, infertility, ectopic pregnancy, etc. [2]. The prevalence of this disease in the general population is estimated to be one in 15,000–20,000 [3]. The symptoms of PCD (cough, recurrent bronchial infections) are non-specific compared to other causes of lower respiratory tract infection, therefore, PCD is significantly underdiagnosed. The true prevalence could be even higher.
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia
Published in Ophthalmic Genetics, 2022
A 43-year-old Emirati female was referred for further evaluation of Stargardt disease, which had been diagnosed at 40 years old when she sought ophthalmic evaluation for dry eye complaints. Past ocular history was significant for refractive surgery at 31 years old. Past medical history was significant for clinically-diagnosed primary ciliary dyskinesia, confirmed by endotracheal brush sampling at 38 years old. Since childhood, she had had recurrent sino-pulmonary infections and bronchiectasis. She was also unable to conceive and suffered from decreased hearing with tinnitus. In addition, she had gastroesophageal reflux disease. Her chest X-ray did not show situs inversus. Medications for her primary ciliary dyskinesia included acetylcysteine, fluticasone furoate-vilanterol inhaler, and mometasone nasal spray.
Pediatric respiratory medicine
Published in Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 2020
Primary Ciliary Dyskinesia has been a challenge to diagnose with no single gold standard investigation available. O’Connor et al.14 summarized the 2018 recommendations for the diagnosis of Primary Ciliary Dyskinesia (PCD). Among the recommendations, the preferred diagnostic work up in individuals with a phenotype of PCD includes nasal nitric oxide (nNO) as a first line test in children over the age of 5 at centers with access to this test, and an extended genetic panel for all others. Electron microscopy of the ciliary ultrastructure can be an important second- or third-line test and it is important to note that no single test can definitively rule out PCD.14 Given that nNO is considered a first line test and can be technically difficult, the PCD Foundation’s Clinical and Research Center Network standard operating protocols were published by Shapiro et al.15 However, nNO testing is not approved for clinical use in Canada and is currently available at only select centers. Therefore, a significant portion of the Canadian population does not have easy access to this first line testing.